Detailed info
Owner: |
MedGenetics-lab |
Position: |
exon 2 |
HAEUID: |
314 |
Nucleotide change |
Protein change |
Traditional: |
262T>G |
Traditional: |
p.Leu-11Arg |
HUGO: |
g. |
HUGO: |
p.Leu12Arg |
CDS: |
c.35T>G |
Effect: |
pathogenic |
Reference: |
Ann Hum Genet. 2014 Mar;78(2):73-82. |
Family history: |
sporadic (negative) |
No. of cases: |
0 |
Notes: |
DNA sequencing |
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