Search Results: 1 unique variant retrieved.
Terms with a '*' next to them are explained on the Help Page .
c.4835A>T
p.Asp1612Val (Legacy AA No. 1584)
Variant Type:
Point
Domain:
d5A3
Location:
Exon 14
Variant Effect:
Missense
Codon Change:
4935A>T
No. of Patients Reported:
2
Phenotype:
NA
Association:
Unknown
Allele Count *:
29
Allele Number *:
282252
Allele Frequency *:
0.000103
References and Comments:
NCBI Clinvar Variation ID: 293594NA