Search Results: 2 unique variants retrieved
Terms with a '*' next to them are explained on the Help Page .
c.2222A>G
p.Asn741Ser (Legacy AA No. 713)
Variant Type:
Point
Domain:
d5B
Location:
Exon 13
Variant Effect:
Missense
Codon Change:
2222A>G
No. of Patients Reported:
4
Phenotype:
NA
Association:
Unknown
Allele Count *:
440
Allele Number *:
282552
Allele Frequency *:
0.001557
References and Comments:
NCBI Clinvar Variation ID: 293621NA
c.2223C>A
p.Asn741Lys (Legacy AA No. 713)
Variant Type:
Point
Domain:
d5B
Location:
Exon 13
Variant Effect:
Missense
Codon Change:
2223C>A
No. of Patients Reported:
1
Phenotype:
NA
Association:
Unknown
Allele Count *:
14
Allele Number *:
282546
Allele Frequency *:
0.00005
References and Comments:
NCBI Clinvar Variation ID: 1176518NA