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 1:16027432 (forward strand) | View in location tab

Co-located

with HGMD-PUBLIC CM081213

Most severe consequence
 
Stop gained
Evidence status

Clinical significance

Synonyms

LSDB 10726

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

1:g.16027432C>T
ENST00000331433.4:c.778C>T
ENSP00000332771.4:p.Gln260Ter
ENST00000464764.5:n.1341C>T
ENST00000439316.6:c.649C>T
ENSP00000414445.2:p.Gln217Ter
ENST00000375692.5:c.778C>T
ENSP00000364844.1:p.Gln260Ter
ENST00000491433.1:n.194C>T

About this variant

This variant overlaps 6 transcripts and is associated with 2 phenotypes.

Variant displays