Original source

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

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

Chromosome 11:36574607 (forward strand)|View in location tab

Co-located variants

HGMD-PUBLIC CM010071 ; PhenCode RAG1base_HSRAG1:g.1415A>G (A/G)

Most severe consequence
 
Missense variant
Evidence status

Clinical significance

Synonyms

Uniprot VAR_025976

HGVS names

This variant has 8 HGVS names - Show

About this variant

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

Variant displays