Original source

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

C/T | Ancestral: C | Ambiguity code: Y

Chromosome 11:36574490 (forward strand) | View in location tab


with HGMD-PUBLIC CM981692 ; PhenCode RAG1base_RAG1_DNA:g.7478C>T (C/T), RAG1base_HSRAG1:g.1298C>T (C/T)

Most severe consequence
Missense variant
Evidence status

Clinical significance


This variant has 3 synonyms - Show

HGVS names

This variant has 8 HGVS names - Show

About this variant

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

Variant displays