Original source

Variants (including SNPs and indels) imported from dbSNP (release 144)|View in dbSNP

Alleles
T/C|Ancestral: C|Ambiguity code: Y|MAF: 0.02 (T)
Location

Chromosome 5:74685445 (forward strand)|View in location tab

Co-located variant

HGMD-PUBLIC CM952225

Most severe consequence
 
Missense variant
Evidence status

Clinical significance

Synonyms

This variant has 6 synonyms - Show

HGVS names

This variant has 6 HGVS names - Hide

5:g.74685445T>C
ENST00000511181.5:c.-376-3883T>C
ENST00000261416.11:c.185T>C
ENSP00000261416.7:p.Leu62Ser
ENST00000515528.1:n.240T>C
ENST00000513079.5:n.250T>C

Genotyping chips

This variant has assays on 6 chips - Show

About this variant

This variant overlaps 4 transcripts, 1 regulatory feature, has 3186 sample genotypes and is associated with 4 phenotypes.

Variant displays