Original source

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

Alleles
C/G/T|Ancestral: C|Ambiguity code: B
Location

Chromosome 5:137870830 (forward strand)|View in location tab

Co-located variants

COSMIC COSM170950 ; HGMD-PUBLIC CM041093, CM041092 ; PhenCode MYOT:c.179C>G (C/G), MYOT:c.179C>T (C/T)

Most severe consequence
 
Missense variant
Evidence status

Clinical significance

Synonyms

This variant has 3 synonyms - Show

HGVS names

This variant has 22 HGVS names - Hide

Variant allele T
5:g.137870830C>T
ENST00000514616.5:n.301-11567G>A
ENST00000511625.5:n.179+305C>T
ENST00000239926.8:c.179C>T
ENSP00000239926.4:p.Ser60Phe
ENST00000515645.1:c.-120-47C>T
ENST00000509812.5:n.179+305C>T
ENST00000421631.6:c.-197+305C>T
LRG_201:g.7975C>T
LRG_201t1:c.179C>T
LRG_201p1:p.Ser60Phe

Variant allele G
5:g.137870830C>G
ENST00000514616.5:n.301-11567G>C
ENST00000511625.5:n.179+305C>G
ENST00000239926.8:c.179C>G
ENSP00000239926.4:p.Ser60Cys
ENST00000515645.1:c.-120-47C>G
ENST00000509812.5:n.179+305C>G
ENST00000421631.6:c.-197+305C>G
LRG_201:g.7975C>G
LRG_201t1:c.179C>G
LRG_201p1:p.Ser60Cys

About this variant

This variant overlaps 14 transcripts and is associated with 4 phenotypes.

Variant displays