Original source

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

Alleles
G/T | Ancestral: G | Ambiguity code: K
Location

Chromosome 5:137870935 (forward strand) | View in location tab

Co-located

with HGMD-PUBLIC CM041094 ; PhenCode MYOT:c.284G>T (G/T)

Most severe consequence
Evidence status

Clinical significance

Synonyms

LSDB 12388

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

5:g.137870935G>T
ENST00000514616.4:n.301-11672C>A
ENST00000511625.4:n.179+410G>T
ENST00000239926.7:c.284G>T
ENSP00000239926.4:p.Ser95Ile
ENST00000515645.1:c.-62G>T
ENST00000509812.4:n.179+410G>T
ENST00000421631.5:c.-197+410G>T
LRG_201:g.8080G>T
LRG_201t1:c.284G>T
LRG_201p1:p.Ser95Ile

About this variant

This variant overlaps 7 transcripts and is associated with 2 phenotypes.

Variation displays