Detailed info
Owner: |
MedGenetics-lab |
Position: |
exon 2 |
HAEUID: |
312 |
Nucleotide change |
Protein change |
Traditional: |
229T>C |
Traditional: |
p.Met-22Thr |
HUGO: |
g. |
HUGO: |
p.Met1Thr |
CDS: |
c.2T>C |
Effect: |
pathogenic |
Reference: |
Ann Hum Genet. 2014 Mar;78(2):73-82. |
Family history: |
sporadic (negative) |
No. of cases: |
0 |
Notes: |
DNA sequencing |
Add note (registered labs only)
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