Original source

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

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

Chromosome 11:108142545 (forward strand)|View in location tab

Co-located variant

HGMD-PUBLIC CM980014

Most severe consequence
 
Missense variant
Evidence status

Clinical significance

Synonyms

LSDB 15247

HGVS names

This variant has 6 HGVS names - Show

Genotyping chips

This variant has assays on: HumanCoreExome-12, Illumina_ExomeChip

About this variant

This variant overlaps 7 transcripts and is associated with 2 phenotypes.

Variant displays