Search Results: 1 unique variant retrieved.
Terms with a '*' next to them are explained on the Help Page .
c.5245C>G
p.Leu1749Val (Legacy AA No. 1721)
Variant Type:
Point
Domain:
d5A3
Location:
Exon 16
Variant Effect:
Missense
Codon Change:
5245C>G
No. of Patients Reported:
4
Phenotype:
NA
Association:
Unknown
Allele Count *:
682
Allele Number *:
281968
Allele Frequency *:
0.002419
References and Comments:
NCBI Clinvar Variation ID: 713561NA