Search Results: 1 unique variant retrieved.
Terms with a '*' next to them are explained on the Help Page .
c.4959T>A
p.Asp1653Glu (Legacy AA No. 1625)
Variant Type:
Point
Domain:
d5A3
Location:
Exon 14
Variant Effect:
Missense
Codon Change:
4959T>A
No. of Patients Reported:
1
Phenotype:
NA
Association:
Unknown
Allele Count *:
1
Allele Number *:
250996
Allele Frequency *:
0.000004
References and Comments:
NCBI Clinvar Variation ID: 293593NA