Search Results: 1 unique variant retrieved.
Terms with a '*' next to them are explained on the Help Page .
c.4346C>T
p.Pro1449Leu (Legacy AA No. 1421)
Variant Type:
Point
Domain:
d5B
Location:
Exon 13
Variant Effect:
Missense
Codon Change:
4346C>T
No. of Patients Reported:
1
Phenotype:
NA
Association:
Unknown
Allele Count *:
23
Allele Number *:
281862
Allele Frequency *:
0.000082
References and Comments:
NCBI Clinvar Variation ID: 1138027NA