Original source

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

Alleles
G/A|Ancestral: G|Ambiguity code: R
Location

Chromosome 1:209650023 (forward strand)|View in location tab

Co-located variant

HGMD-PUBLIC CM950743

Most severe consequence
 
Stop gained
Evidence status

Clinical significance

Synonyms

This variant has 3 synonyms - Show

HGVS names

This variant has 9 HGVS names - Hide

1:g.209650023G>A
ENST00000356082.8:c.124C>T
ENSP00000348384.3:p.Arg42Ter
ENST00000415782.1:c.124C>T
ENSP00000388960.1:p.Arg42Ter
ENST00000391911.5:c.124C>T
ENSP00000375778.1:p.Arg42Ter
ENST00000367030.7:c.124C>T
ENSP00000355997.3:p.Arg42Ter

About this variant

This variant overlaps 4 transcripts, 1 regulatory feature, is associated with 2 phenotypes and is mentioned in 2 citations.

Variant displays