Original source

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

Alleles
G/A | Ancestral: G | Ambiguity code: R
Location

Chromosome 4:987916 (forward strand) | View in location tab

Co-located

with HGMD-PUBLIC CM950677

Most severe consequence
Evidence status

Clinical significance

Synonyms

LSDB 6456

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

4:g.987916G>A
ENST00000514698.4:n.199+674G>A
ENST00000508168.4:n.177+674G>A
ENST00000504568.4:c.259+5G>A
ENST00000398520.5:c.576+3212C>T
ENST00000622731.3:c.576+3212C>T
ENST00000506561.4:n.275G>A
ENST00000361661.5:c.*917C>T
ENST00000509744.1:n.2G>A
ENST00000502910.4:c.158+674G>A
ENST00000247933.7:c.266G>A
ENSP00000247933.4:p.Arg89Gln

About this variant

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

Variation displays