Original source

Variants (including SNPs and indels) imported from dbSNP (mapped to GRCh38) (release 138) | [View in dbSNP]

G/A/T | Ancestral: G | Ambiguity code: D

Chromosome 11:36574491 (forward strand) | View in location tab


with COSMIC COSM304336 (G/A) ; HGMD-PUBLIC CM010067, CM981691 ; PhenCode RAG1base_RAG1_DNA:g.7479G>A (G/A), RAG1base_HSRAG1:g.1299G>A (G/A), RAG1base_HSRAG1:g.1299G>T (G/T)

Most severe consequence
Evidence status

Clinical significance

This variation has 4 synonyms - click the plus to show

This variation has 16 HGVS names - click the plus to show

Genotyping chips

This variation has assays on: Illumina_ExomeChip, HumanCoreExome-12

About this variant

This variant overlaps 8 transcripts, is associated with 4 phenotypes and is mentioned in 1 citation.

Variation displays