Original source

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

Alleles
T/G|Ancestral: T|Ambiguity code: K
Location

Chromosome 18:23539823 (forward strand)|View in location tab

Co-located variant

HGMD-PUBLIC CM971073

Most severe consequence
 
Missense variant
Evidence status

Clinical significance

Synonyms

This variant has 3 synonyms - Show

HGVS names

This variant has 8 HGVS names - Hide

18:g.23539823T>G
ENST00000591075.1:n.76A>C
ENST00000586718.1:n.574A>C
ENST00000540608.5:n.2697A>C
ENST00000269228.9:c.2783A>C
ENSP00000269228.4:p.Gln928Pro
ENST00000591051.1:c.1861A>C
ENSP00000467636.1:p.Gln621Pro

About this variant

This variant overlaps 9 transcripts, 1 regulatory feature and is associated with 3 phenotypes.

Variant displays