Search Results: 1 unique variant retrieved.
Terms with a '*' next to them are explained on the Help Page .
c.1671G>C
p.Trp557Cys (Legacy AA No. 529)
Variant Type:
Point
Domain:
d5A2
Location:
Exon 11
Variant Effect:
Missense
Codon Change:
1671G>C
No. of Patients Reported:
1
Phenotype:
NA
Association:
Unknown
Allele Count *:
NA
Allele Number *:
NA
Allele Frequency *:
NA
References and Comments:
NCBI Clinvar Variation ID: 627013NA