Original source

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

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

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

Co-located

with HGMD-PUBLIC CM971073

Most severe consequence
 
Missense variant
Evidence status

Clinical significance

This variant has 3 synonyms - click the plus to show

This variant has 8 HGVS names - click the plus to show

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