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 7:143330868 (forward strand)|View in location tab

Co-located variants

HGMD-PUBLIC CM076104, CM950267

Most severe consequence
 
Missense variant
Evidence status

Clinical significance

Synonyms

This variant has 3 synonyms - Show

HGVS names

This variant has 6 HGVS names - Hide

7:g.143330868G>A
ENST00000343257.6:c.950G>A
ENSP00000339867.2:p.Arg317Gln
ENST00000432192.5:c.*235G>A
ENST00000455478.5:c.*235G>A
ENST00000495612.1:n.251G>A

Genotyping chips

This variant has assays on: HumanCoreExome-12

About this variant

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

Variant displays