Search Results: 2 unique variants retrieved
Terms with a '*' next to them are explained on the Help Page .
c.1033C>T
p.Arg345Trp (Legacy AA No. 317)
Variant Type:
Point
Domain:
d5A2
Location:
Exon 7
Variant Effect:
Missense
Codon Change:
1033C>T
No. of Patients Reported:
2
Phenotype:
NA
Association:
Unknown
Allele Count *:
57
Allele Number *:
282798
Allele Frequency *:
0.000202
References and Comments:
NCBI Clinvar Variation ID: 874622NA
c.1034G>A
p.Arg345Gln (Legacy AA No. 317)
Variant Type:
Point
Domain:
d5A2
Location:
Exon 7
Variant Effect:
Missense
Codon Change:
1034G>A
No. of Patients Reported:
3
Phenotype:
NA
Association:
Unknown
Allele Count *:
14
Allele Number *:
251422
Allele Frequency *:
0.000056
References and Comments:
NCBI Clinvar Variation ID: 293632NA