Search Results: 1 unique variant retrieved.
Terms with a '*' next to them are explained on the Help Page .
c.106G>A
p.Val36Met (Legacy AA No. 8)
Variant Type:
Point
Domain:
d5A1
Location:
Exon 1
Variant Effect:
Missense
Codon Change:
106G>A
No. of Patients Reported:
1
Phenotype:
NA
Association:
Unknown
Allele Count *:
129
Allele Number *:
281924
Allele Frequency *:
0.000458
References and Comments:
NCBI Clinvar Variation ID: 710594NA