Search Results: 1 unique variant retrieved.
Terms with a '*' next to them are explained on the Help Page .
c.3961A>C
p.Ile1321Leu (Legacy AA No. 1293)
Variant Type:
Point
Domain:
d5B
Location:
Exon 13
Variant Effect:
Missense
Codon Change:
3961A>C
No. of Patients Reported:
1
Phenotype:
NA
Association:
Unknown
Allele Count *:
12
Allele Number *:
230976
Allele Frequency *:
0.000052
References and Comments:
NCBI Clinvar Variation ID: 875952NA