Search Results: 1 unique variant retrieved.
Terms with a '*' next to them are explained on the Help Page .
c.3455A>C
p.Glu1152Ala (Legacy AA No. 1124)
Variant Type:
Point
Domain:
d5B
Location:
Exon 13
Variant Effect:
Missense
Codon Change:
3455A>C
No. of Patients Reported:
3
Phenotype:
NA
Association:
Unknown
Allele Count *:
41
Allele Number *:
282664
Allele Frequency *:
0.000145
References and Comments:
NCBI Clinvar Variation ID: 293606NA