Original source

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

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

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

Co-located

with HGMD-PUBLIC CM950267, CM076104

Most severe consequence
 
Missense variant
Evidence status

Clinical significance

This variant has 3 synonyms - click the plus to show

This variant has 6 HGVS names - click the plus to show

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