Original source

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

Alleles
G/C | Ancestral: G | Ambiguity code: S
Location

Chromosome 17:77320193 (forward strand) | View in location tab

Co-located

with HGMD-PUBLIC CR053509

Most severe consequence
 
5 prime UTR variant
Evidence status

Clinical significance

Synonyms

LSDB NM_006640.4:c.-134G>C

This variant has 13 HGVS names - click the plus to show

17:g.77320193G>C
ENST00000590595.1:c.36+390G>C
ENST00000431235.6:c.-417+12996G>C
ENST00000591198.5:c.19+38639G>C
ENST00000329047.12:c.-134G>C
ENST00000590294.5:c.-134G>C
ENST00000589070.1:c.31+39387G>C
ENST00000449803.6:c.-417+12996G>C
ENST00000590576.5:c.*76+12996G>C
ENST00000587237.1:n.406+12996G>C
ENST00000591833.5:c.*71+12996G>C
ENST00000427177.5:c.76+12996G>C
ENST00000588575.1:c.36+390G>C

About this variant

This variant overlaps 15 transcripts, 1 regulatory feature, is associated with 2 phenotypes and is mentioned in 1 citation.

Variant displays