Original source

Variants (including SNPs and indels) imported from dbSNP (release 138) | View in dbSNP

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

Chromosome 5:137206519 (forward strand) | View in location tab

Co-located

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

Most severe consequence
Evidence status

Clinical significance

This variation has 3 synonyms - click the plus to show

This variation has 22 HGVS names - click the plus to show

Variant allele T
5:g.137206519C>T
ENST00000511625.1:n.179+305C>T
ENST00000514616.1:n.301-11567G>A
ENST00000239926.4:c.179C>T
ENSP00000239926.4:p.Ser60Phe
ENST00000515645.1:c.-120-47C>T
ENST00000509812.1:n.179+305C>T
ENST00000421631.2:c.-197+305C>T
LRG_201:g.7975C>T
LRG_201t1.1:c.179C>T
LRG_201p1.1:p.Ser60Phe

Variant allele G
5:g.137206519C>G
ENST00000511625.1:n.179+305C>G
ENST00000514616.1:n.301-11567G>C
ENST00000239926.4:c.179C>G
ENSP00000239926.4:p.Ser60Cys
ENST00000515645.1:c.-120-47C>G
ENST00000509812.1:n.179+305C>G
ENST00000421631.2:c.-197+305C>G
LRG_201:g.7975C>G
LRG_201t1.1:c.179C>G
LRG_201p1.1:p.Ser60Cys

Variation displays