Original source

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

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

Chromosome 4:987858 (forward strand) | View in location tab

Co-located

with HGMD-PUBLIC CM930424

Most severe consequence
 
Stop gained
Evidence status

Clinical significance

Synonyms

LSDB 6443

This variant has 11 HGVS names - click the plus to show

4:g.987858C>T
ENST00000514698.5:n.199+616C>T
ENST00000508168.5:n.177+616C>T
ENST00000504568.5:c.206C>T
ENST00000398520.6:c.576+3270G>A
ENST00000622731.4:c.576+3270G>A
ENST00000506561.5:n.217C>T
ENST00000361661.6:c.*975G>A
ENST00000247933.8:c.208C>T
ENSP00000247933.4:p.Gln70Ter
ENST00000502910.5:c.158+616C>T

Genotyping chips

This variant has assays on: HumanCoreExome-12, Illumina_ExomeChip

About this variant

This variant overlaps 15 transcripts and is associated with 3 phenotypes.

Variant displays