Original source

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

Alleles
C/A | Ancestral: C | Ambiguity code: M
Location

Chromosome 4:987842 (forward strand) | View in location tab

Co-located

with HGMD-PUBLIC CM930423

Most severe consequence
 
Stop gained
Evidence status

Clinical significance

Synonyms

LSDB 6447

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

4:g.987842C>A
ENST00000514698.5:n.199+600C>A
ENST00000508168.5:n.177+600C>A
ENST00000504568.5:c.190C>A
ENSP00000424847.1:p.Thr64Lys
ENST00000398520.6:c.576+3286G>T
ENST00000622731.4:c.576+3286G>T
ENST00000506561.5:n.201C>A
ENST00000361661.6:c.*991G>T
ENST00000502910.5:c.158+600C>A
ENST00000247933.8:c.192C>A
ENSP00000247933.4:p.Tyr64Ter

About this variant

This variant overlaps 15 transcripts and is associated with 2 phenotypes.

Variant displays