Detailed info
Owner: |
Wuerzburg |
Position: |
exon 7 |
HAEUID: |
267 |
Nucleotide change |
Protein change |
Traditional: |
14213_14216delGACC |
Traditional: |
Frameshift |
HUGO: |
g. |
HUGO: |
p. |
CDS: |
c.1212_1215delGACC |
Effect: |
pathogenic |
Reference: |
Gößwein et al. (Cytogenet Genome Res 2008; 121(3-4):181-8) |
Family history: |
positive |
No. of cases: |
0 |
Notes: |
2 members of 1 family |
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