Original source

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

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

Chromosome 11:17395647 (forward strand)|View in location tab

Co-located variant

HGMD-PUBLIC CM067625

Most severe consequence
 
Missense variant
Evidence status

Clinical significance

Synonyms

This variant has 3 synonyms - Show

HGVS names

This variant has 10 HGVS names - Hide

11:g.17395647T>C
ENST00000389817.7:c.4270A>G
ENSP00000374467.3:p.Ile1424Val
ENST00000526037.5:n.134A>G
ENST00000525022.1:n.269A>G
ENST00000531642.5:c.106A>G
ENST00000531642.5:c.106A>G(p.=)
ENST00000526168.5:c.67-9A>G
ENST00000302539.8:c.4273A>G
ENSP00000303960.4:p.Ile1425Val

About this variant

This variant overlaps 11 transcripts, is associated with 2 phenotypes and is mentioned in 1 citation.

Variant displays