Search Results: 1 unique variant retrieved.
Terms with a '*' next to them are explained on the Help Page .
c.3949G>A
p.Gly1317Ser (Legacy AA No. 1289)
Variant Type:
Point
Domain:
d5B
Location:
Exon 13
Variant Effect:
Missense
Codon Change:
3949G>A
No. of Patients Reported:
3
Phenotype:
NA
Association:
Unknown
Allele Count *:
21
Allele Number *:
278226
Allele Frequency *:
0.000075
References and Comments:
NCBI Clinvar Variation ID: 293602NA