Search Results: 1 unique variant retrieved.
Terms with a '*' next to them are explained on the Help Page .
c.2806C>G
p.Gln936Glu (Legacy AA No. 908)
Variant Type:
Point
Domain:
d5B
Location:
Exon 13
Variant Effect:
Missense
Codon Change:
2806C>G
No. of Patients Reported:
1
Phenotype:
NA
Association:
Unknown
Allele Count *:
21
Allele Number *:
282522
Allele Frequency *:
0.000074
References and Comments:
NCBI Clinvar Variation ID: 1148226NA