Original source

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

Alleles
T/A/C|Ancestral: T|Ambiguity code: H
Location

Chromosome 3:165830567 (forward strand)|View in location tab

Co-located variants

COSMIC COSM4801297 ; HGMD-PUBLIC CM970162

Most severe consequence
 
Missense variant
Evidence status

Clinical significance

Synonyms

LSDB 5076

HGVS names

This variant has 18 HGVS names - Hide

Variant allele A
3:g.165830567T>A
ENST00000482958.1:c.467A>T
ENSP00000419804.1:p.Tyr156Phe
ENST00000264381.7:c.467A>T
ENSP00000264381.3:p.Tyr156Phe
ENST00000479451.5:c.107+6747A>T
ENST00000488954.1:c.107+6747A>T
ENST00000497011.5:c.467A>T
ENSP00000419505.1:p.Tyr156Phe

Variant allele C
3:g.165830567T>C
ENST00000482958.1:c.467A>G
ENSP00000419804.1:p.Tyr156Cys
ENST00000264381.7:c.467A>G
ENSP00000264381.3:p.Tyr156Cys
ENST00000479451.5:c.107+6747A>G
ENST00000488954.1:c.107+6747A>G
ENST00000497011.5:c.467A>G
ENSP00000419505.1:p.Tyr156Cys

About this variant

This variant overlaps 10 transcripts and is associated with 2 phenotypes.

Variant displays