Search Results: 1 unique variant retrieved.
Terms with a '*' next to them are explained on the Help Page .
c.3221A>G
p.Asn1074Ser (Legacy AA No. 1046)
Variant Type:
Point
Domain:
d5B
Location:
Exon 13
Variant Effect:
Missense
Codon Change:
3221A>G
No. of Patients Reported:
2
Phenotype:
NA
Association:
Unknown
Allele Count *:
34
Allele Number *:
251272
Allele Frequency *:
0.000135
References and Comments:
NCBI Clinvar Variation ID: 870845NA