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 4:186208972 (forward strand)|View in location tab

Co-located variants

COSMIC COSM586931 ; HGMD-PUBLIC CM074768

Most severe consequence
 
Missense variant
Evidence status

Clinical significance

Synonyms

LSDB NM_207352.3:c.1198C>T

HGVS names

This variant has 6 HGVS names - Show

About this variant

This variant overlaps 5 transcripts and is associated with 1 phenotype.

Variant displays