Search Results: 1 unique variant retrieved.
Terms with a '*' next to them are explained on the Help Page .
c.6241C>G
p.Gln2081Glu (Legacy AA No. 2053)
Variant Type:
Point
Domain:
d5C2
Location:
Exon 23
Variant Effect:
Missense
Codon Change:
6241C>G
No. of Patients Reported:
1
Phenotype:
NA
Association:
Unknown
Allele Count *:
2
Allele Number *:
251262
Allele Frequency *:
0.000008
References and Comments:
NCBI Clinvar Variation ID: 875605NA