Original source

Variants (including SNPs and indels) imported from dbSNP (release 142) | View in dbSNP

Alleles
T/A | Ancestral: T | Ambiguity code: W
Location

Chromosome 16:89510539 (forward strand) | View in location tab

Co-located

with HGMD-PUBLIC CM081826

Most severe consequence
 
Stop gained
Evidence status

Clinical significance

Synonyms

LSDB 11462

This variant has 12 HGVS names - click the plus to show

16:g.89510539T>A
ENST00000268704.6:c.233T>A
ENSP00000268704.2:p.Leu78Ter
ENST00000341316.6:c.233T>A
ENSP00000341157.2:p.Leu78Ter
ENST00000620811.4:c.-1344T>A
ENST00000566371.5:c.101T>A
ENSP00000454475.1:p.Leu34Ter
ENST00000563783.5:n.520T>A
ENST00000569363.1:n.74T>A
ENST00000568151.1:c.329T>A
ENSP00000457719.1:p.Leu110Ter

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