Original source

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

Alleles
A/C|Ancestral: A|Ambiguity code: M
Location

Chromosome 11:36576246 (forward strand)|View in location tab

Co-located variants

HGMD-PUBLIC CM054093 ; PhenCode RAG1base_RAG1_DNA:g.9234A>C (A/C)

Most severe consequence
 
Missense variant
Evidence status

Clinical significance

Synonyms

This variant has 3 synonyms - Show

HGVS names

This variant has 8 HGVS names - Show

About this variant

This variant overlaps 4 transcripts and is associated with 3 phenotypes.

Variant displays