Search Results: 1 unique variant retrieved.
Terms with a '*' next to them are explained on the Help Page .
c.3952C>A
p.Gln1318Lys (Legacy AA No. 1290)
Variant Type:
Point
Domain:
d5B
Location:
Exon 13
Variant Effect:
Missense
Codon Change:
3952C>A
No. of Patients Reported:
1
Phenotype:
NA
Association:
Unknown
Allele Count *:
123
Allele Number *:
250752
Allele Frequency *:
0.000491
References and Comments:
NCBI Clinvar Variation ID: 875953NA