Search Results: 1 unique variant retrieved.
Terms with a '*' next to them are explained on the Help Page .
c.5923G>C
p.Gly1975Arg (Legacy AA No. 1947)
Variant Type:
Point
Domain:
d5C1
Location:
Exon 21
Variant Effect:
Missense
Codon Change:
5923G>C
No. of Patients Reported:
1
Phenotype:
NA
Association:
Unknown
Allele Count *:
37
Allele Number *:
282550
Allele Frequency *:
0.000131
References and Comments:
NCBI Clinvar Variation ID: 873759NA