Original source

Variants (including SNPs and indels) imported from dbSNP (release 144)|View in dbSNP

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

Chromosome 5:137870767 (forward strand)|View in location tab

Co-located variants

HGMD-PUBLIC CM058207 ; PhenCode MYOT:c.116C>T (C/T)

Most severe consequence
 
Missense variant
Evidence status

Clinical significance

Synonyms

LSDB 12389

HGVS names

This variant has 11 HGVS names - Hide

5:g.137870767C>T
ENST00000514616.5:n.301-11504G>A
ENST00000511625.5:n.179+242C>T
ENST00000239926.8:c.116C>T
ENSP00000239926.4:p.Ser39Phe
ENST00000509812.5:n.179+242C>T
ENST00000515645.1:c.-120-110C>T
ENST00000421631.6:c.-197+242C>T
LRG_201:g.7912C>T
LRG_201t1:c.116C>T
LRG_201p1:p.Ser39Phe

About this variant

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

Variant displays