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 1:209625721 (forward strand)|View in location tab

Co-located variant

HGMD-PUBLIC CM941034

Most severe consequence
 
Stop gained
Evidence status

Clinical significance

Synonyms

This variant has 3 synonyms - Show

HGVS names

This variant has 7 HGVS names - Hide

1:g.209625721G>A
ENST00000356082.8:c.1903C>T
ENSP00000348384.3:p.Arg635Ter
ENST00000391911.5:c.1903C>T
ENSP00000375778.1:p.Arg635Ter
ENST00000367030.7:c.1903C>T
ENSP00000355997.3:p.Arg635Ter

Genotyping chips

This variant has assays on: HumanCoreExome-12, Illumina_ExomeChip

About this variant

This variant overlaps 4 transcripts, 1 regulatory feature, is associated with 3 phenotypes and is mentioned in 5 citations.

Variant displays