Original source

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

Alleles
G/T|Ancestral: G|Ambiguity code: K
Location

Chromosome 4:186196075 (forward strand)|View in location tab

Co-located variant

HGMD-PUBLIC CM041499

Most severe consequence
 
Stop gained
Evidence status

Clinical significance

Synonyms

LSDB NM_207352.3:c.400G>T

HGVS names

This variant has 3 HGVS names - Show

Genotyping chips

This variant has assays on: HumanCoreExome-12, Illumina_ExomeChip

About this variant

This variant overlaps 3 transcripts and is associated with 1 phenotype.

Variant displays