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 5:132392598 (forward strand)|View in location tab

Co-located variants

COSMIC COSM3608458, COSM3608459 ; HGMD-PUBLIC CM991138

Most severe consequence
 
Missense variant
Evidence status

Clinical significance

Synonyms

LSDB 11840

HGVS names

This variant has 10 HGVS names - Hide

5:g.132392598C>T
ENST00000435065.6:c.1505C>T
ENSP00000402760.2:p.Pro502Leu
ENST00000461013.5:n.8855C>T
ENST00000475308.1:n.2111C>T
ENST00000447841.5:c.*165C>T
ENST00000479605.5:n.536C>T
ENST00000245407.7:c.1433C>T
ENSP00000245407.3:p.Pro478Leu
ENST00000448810.5:c.*285C>T

About this variant

This variant overlaps 8 transcripts and is associated with 2 phenotypes.

Variant displays