Original source

Variants (including SNPs and indels) imported from dbSNP (release 142) | 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

with COSMIC COSM450042 (T/C) ; HGMD-PUBLIC CM952225

Most severe consequence
 
Missense variant
Evidence status

Clinical significance

This variant has 6 synonyms - click the plus to show

This variant has 6 HGVS names - click the plus to show

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

This variant has assays on 6 chips - click the plus to show

About this variant

This variant overlaps 4 transcripts, 1 regulatory feature, has 2583 sample genotypes and is associated with 4 phenotypes.

Variant displays