Original source

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

A/C/G | Ancestral: A | Ambiguity code: V

Chromosome 11:47337729 (forward strand) | View in location tab


with HGMD-PUBLIC CM043543

Most severe consequence
Missense variant
Evidence status

Clinical significance


LSDB MYBPC3_2374T_C_121010

HGVS names

This variant has 24 HGVS names - Show

Genotyping chips

This variant has assays on: Illumina_Cardio-Metabo_Chip

About this variant

This variant overlaps 10 transcripts, is associated with 3 phenotypes and is mentioned in 2 citations.

Variant displays