Search Results: 1 unique variant retrieved.
Terms with a '*' next to them are explained on the Help Page .
c.374G>A
p.Gly125Asp (Legacy AA No. 97)
Variant Type:
Point
Domain:
d5A1
Location:
Exon 4
Variant Effect:
Missense
Codon Change:
374G>A
No. of Patients Reported:
1
Phenotype:
NA
Association:
Unknown
Allele Count *:
6
Allele Number *:
251056
Allele Frequency *:
0.000024
References and Comments:
NCBI Clinvar Variation ID: 873809NA