Original source

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

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

Chromosome 2:27312992 (forward strand)|View in location tab

Most severe consequence
Splice donor variant
Evidence status

Clinical significance


LSDB NM_002437.4:c.186+2T>C

HGVS names

This variant has 19 HGVS names - Show

Genotyping chips

This variant has assays on: HumanCoreExome-12, Illumina_ExomeChip

About this variant

This variant overlaps 23 transcripts and is associated with 1 phenotype.

Variant displays