Original source

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

Alleles
C/T|Ancestral: C|Ambiguity code: Y
Location

Chromosome 5:74713584 (forward strand)|View in location tab

Co-located variants

COSMIC COSM1070016 ; HGMD-PUBLIC CM940931

Most severe consequence
 
Stop gained
Evidence status

Clinical significance

Synonyms

LSDB 14263

HGVS names

This variant has 6 HGVS names - Hide

5:g.74713584C>T
ENST00000511181.5:c.175C>T
ENSP00000426285.1:p.Arg59Ter
ENST00000504459.5:n.47C>T
ENST00000261416.11:c.850C>T
ENSP00000261416.7:p.Arg284Ter

About this variant

This variant overlaps 7 transcripts and is associated with 3 phenotypes.

Variant displays