Original source

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

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

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

Co-located

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

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.137870830C>T
ENST00000514616.4:n.301-11567G>A
ENST00000511625.4:n.179+305C>T
ENST00000239926.7:c.179C>T
ENSP00000239926.4:p.Ser60Phe
ENST00000515645.1:c.-120-47C>T
ENST00000509812.4:n.179+305C>T
ENST00000421631.5: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
ENST00000514616.4:n.301-11567G>C
ENST00000511625.4:n.179+305C>G
ENST00000239926.7:c.179C>G
ENSP00000239926.4:p.Ser60Cys
ENST00000515645.1:c.-120-47C>G
ENST00000509812.4:n.179+305C>G
ENST00000421631.5: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.

Variation displays