Search Results: 1 unique variant retrieved.
Terms with a '*' next to them are explained on the Help Page .
c.2135G>A
p.Arg712His (Legacy AA No. 684)
Variant Type:
Point
Domain:
d5a2
Location:
Exon 13
Variant Effect:
Missense
Codon Change:
2135G>A
No. of Patients Reported:
1
Phenotype:
NA
Association:
Unknown
Allele Count *:
7
Allele Number *:
282420
Allele Frequency *:
0.000025
References and Comments:
NCBI Clinvar Variation ID: 806275NA