Original source

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

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

Chromosome 16:11549693 (forward strand) | View in location tab

Co-located

with HGMD-PUBLIC CM095809

Most severe consequence
Evidence status

Clinical significance

Synonyms

LSDB 12173

This variation has 25 HGVS names - click the plus to show

16:g.11549693C>T
ENST00000339430.8:c.430G>A
ENSP00000340118.5:p.Val144Met
ENST00000571459.4:c.*45G>A
ENST00000573332.4:c.*243G>A
ENST00000381810.6:c.431G>A
ENSP00000371231.3:p.Arg144His
ENST00000570904.4:c.430G>A
ENSP00000459138.1:p.Val144Met
ENST00000576036.4:c.430G>A
ENSP00000461667.1:p.Val144Met
ENST00000413364.5:c.*69G>A
ENST00000622633.3:c.430G>A
ENSP00000483114.1:p.Val144Met
ENST00000574763.4:c.430G>A
ENSP00000461813.1:p.Val144Met
ENST00000571688.4:c.430G>A
ENSP00000459533.1:p.Val144Met
ENST00000575426.1:c.*217G>A
ENST00000572255.4:c.151G>A
ENSP00000458836.1:p.Val51Met
ENST00000571627.4:c.430G>A
ENSP00000460743.1:p.Val144Met
LRG_253:g.42258G>A
LRG_253t1:c.*69G>A

About this variant

This variant overlaps 18 transcripts and is associated with 2 phenotypes.

Variation displays