Detailed info
Owner: |
Rijavec-Golnik |
Position: |
exon 5 |
HAEUID: |
322 |
Nucleotide change |
Protein change |
Traditional: |
8452_8457delCAACAA |
Traditional: |
Asn249_Asn250del |
HUGO: |
g.9634_9639delCAACAA |
HUGO: |
p.Asn271_Asn272del |
CDS: |
c.813_818delCAACAA |
Effect: |
pathogenic |
Reference: |
Grivčeva-Panovska et al. (Ann Med. 2018;50(3):269-276) |
Family history: |
positive |
No. of cases: |
0 |
Notes: |
ND |
Add note (registered labs only)
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