Original source

Variants (including SNPs and indels) imported from dbSNP (release 142) | View in dbSNP

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

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

Co-located

with HGMD-PUBLIC CM067625

Most severe consequence
 
Missense variant
Evidence status

Clinical significance

This variant has 3 synonyms - click the plus to show

This variant has 9 HGVS names - click the plus to show

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
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