Search Results: 1 unique variant retrieved.
Terms with a '*' next to them are explained on the Help Page .
c.4949C>T
p.Ala1650Val (Legacy AA No. 1622)
Variant Type:
Point
Domain:
d5A3
Location:
Exon 14
Variant Effect:
Missense
Codon Change:
4949C>T
No. of Patients Reported:
1
Phenotype:
NA
Association:
Unknown
Allele Count *:
21
Allele Number *:
282394
Allele Frequency *:
0.000074
References and Comments:
NCBI Clinvar Variation ID: 1013261NA