You are using an out of date browser. It may not display this or other websites correctly.
You should upgrade or use an alternative browser.
You should upgrade or use an alternative browser.
I have the mutations finally!! Anyone know ANYTHING!?
- Thread starter makahfili
- Start date
Ok, so the Ambry test came back with:
<br />
<br />125G>C (heterozygous), untranslated region. Benign classification.
<br />
<br />2694T>T (homozygous), T854T, Benign classification.
<br />
<br />Can anyone help me de-code this and give me some input?! SO concerned! Anything will help!!
<br />
<br />125G>C (heterozygous), untranslated region. Benign classification.
<br />
<br />2694T>T (homozygous), T854T, Benign classification.
<br />
<br />Can anyone help me de-code this and give me some input?! SO concerned! Anything will help!!
M
Mommafirst
Guest
I don't know anything first hand. I'm looking them up right now for you and here's what I'm seeing:
125G>C seems to be related to Idiopathic Chronic Pancreatitis, specifically in the chinese population. It only has two very vague articles referring to it and seems to be an abnormal CFTR mutation.
The only think I found for the other was here <a target=_blank class=ftalternatingbarlinklarge href="http://www.genet.sickkids.on.ca/cftr/MutationDetailPage.external?sp=1181
">http://www.genet.sickkids.on.c...Page.external?sp=1181
</a>
nothing I saw implies that these are benign though, so maybe I'm not grabbing the right things.
125G>C seems to be related to Idiopathic Chronic Pancreatitis, specifically in the chinese population. It only has two very vague articles referring to it and seems to be an abnormal CFTR mutation.
The only think I found for the other was here <a target=_blank class=ftalternatingbarlinklarge href="http://www.genet.sickkids.on.ca/cftr/MutationDetailPage.external?sp=1181
">http://www.genet.sickkids.on.c...Page.external?sp=1181
</a>
nothing I saw implies that these are benign though, so maybe I'm not grabbing the right things.
M
Mommafirst
Guest
I don't know anything first hand. I'm looking them up right now for you and here's what I'm seeing:
125G>C seems to be related to Idiopathic Chronic Pancreatitis, specifically in the chinese population. It only has two very vague articles referring to it and seems to be an abnormal CFTR mutation.
The only think I found for the other was here <a target=_blank class=ftalternatingbarlinklarge href="http://www.genet.sickkids.on.ca/cftr/MutationDetailPage.external?sp=1181
">http://www.genet.sickkids.on.c...Page.external?sp=1181
</a>
nothing I saw implies that these are benign though, so maybe I'm not grabbing the right things.
125G>C seems to be related to Idiopathic Chronic Pancreatitis, specifically in the chinese population. It only has two very vague articles referring to it and seems to be an abnormal CFTR mutation.
The only think I found for the other was here <a target=_blank class=ftalternatingbarlinklarge href="http://www.genet.sickkids.on.ca/cftr/MutationDetailPage.external?sp=1181
">http://www.genet.sickkids.on.c...Page.external?sp=1181
</a>
nothing I saw implies that these are benign though, so maybe I'm not grabbing the right things.
M
Mommafirst
Guest
I don't know anything first hand. I'm looking them up right now for you and here's what I'm seeing:
125G>C seems to be related to Idiopathic Chronic Pancreatitis, specifically in the chinese population. It only has two very vague articles referring to it and seems to be an abnormal CFTR mutation.
The only think I found for the other was here <a target=_blank class=ftalternatingbarlinklarge href="http://www.genet.sickkids.on.ca/cftr/MutationDetailPage.external?sp=1181
">http://www.genet.sickkids.on.c...Page.external?sp=1181
</a>
nothing I saw implies that these are benign though, so maybe I'm not grabbing the right things.
125G>C seems to be related to Idiopathic Chronic Pancreatitis, specifically in the chinese population. It only has two very vague articles referring to it and seems to be an abnormal CFTR mutation.
The only think I found for the other was here <a target=_blank class=ftalternatingbarlinklarge href="http://www.genet.sickkids.on.ca/cftr/MutationDetailPage.external?sp=1181
">http://www.genet.sickkids.on.c...Page.external?sp=1181
</a>
nothing I saw implies that these are benign though, so maybe I'm not grabbing the right things.
M
Mommafirst
Guest
I don't know anything first hand. I'm looking them up right now for you and here's what I'm seeing:
125G>C seems to be related to Idiopathic Chronic Pancreatitis, specifically in the chinese population. It only has two very vague articles referring to it and seems to be an abnormal CFTR mutation.
The only think I found for the other was here <a target=_blank class=ftalternatingbarlinklarge href="http://www.genet.sickkids.on.ca/cftr/MutationDetailPage.external?sp=1181
">http://www.genet.sickkids.on.c...Page.external?sp=1181
</a>
nothing I saw implies that these are benign though, so maybe I'm not grabbing the right things.
125G>C seems to be related to Idiopathic Chronic Pancreatitis, specifically in the chinese population. It only has two very vague articles referring to it and seems to be an abnormal CFTR mutation.
The only think I found for the other was here <a target=_blank class=ftalternatingbarlinklarge href="http://www.genet.sickkids.on.ca/cftr/MutationDetailPage.external?sp=1181
">http://www.genet.sickkids.on.c...Page.external?sp=1181
</a>
nothing I saw implies that these are benign though, so maybe I'm not grabbing the right things.
M
Mommafirst
Guest
I don't know anything first hand. I'm looking them up right now for you and here's what I'm seeing:
<br />
<br />125G>C seems to be related to Idiopathic Chronic Pancreatitis, specifically in the chinese population. It only has two very vague articles referring to it and seems to be an abnormal CFTR mutation.
<br />
<br />The only think I found for the other was here <a target=_blank class=ftalternatingbarlinklarge href="http://www.genet.sickkids.on.ca/cftr/MutationDetailPage.external?sp=1181
">http://www.genet.sickkids.on.c...Page.external?sp=1181
</a><br />
<br />nothing I saw implies that these are benign though, so maybe I'm not grabbing the right things.
<br />
<br />125G>C seems to be related to Idiopathic Chronic Pancreatitis, specifically in the chinese population. It only has two very vague articles referring to it and seems to be an abnormal CFTR mutation.
<br />
<br />The only think I found for the other was here <a target=_blank class=ftalternatingbarlinklarge href="http://www.genet.sickkids.on.ca/cftr/MutationDetailPage.external?sp=1181
">http://www.genet.sickkids.on.c...Page.external?sp=1181
</a><br />
<br />nothing I saw implies that these are benign though, so maybe I'm not grabbing the right things.
M
Mommafirst
Guest
Benign would mean that they aren't disease causing. They are mutated versions of the gene, but they function the same as the regular CFTR.
M
Mommafirst
Guest
Benign would mean that they aren't disease causing. They are mutated versions of the gene, but they function the same as the regular CFTR.