Detailed info
Owner: |
MedGenetics-lab |
Position: |
exon 8 |
HAEUID: |
310 |
Nucleotide change |
Protein change |
Traditional: |
1536C>T |
Traditional: |
p.Gln415* |
HUGO: |
g. |
HUGO: |
p.Gln437* |
CDS: |
c.1309C>T |
Effect: |
pathogenic |
Reference: |
Ann Hum Genet. 2014 Mar;78(2):73-82. |
Family history: |
positive |
No. of cases: |
0 |
Notes: |
DNA sequencing |
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