chr1:154172972:G>C Detail (hg38) (TPM3)

Information

Genome

Assembly Position
hg19 chr1:154,145,448-154,145,448 View the variant detail on this assembly version.
hg38 chr1:154,172,972-154,172,972

HGVS

Type Transcript Protein
RefSeq NM_001278191.1:c.121C>G NP_001265120.1:p.Arg41Gly
NM_001278189.1:c.391C>G NP_001265118.1:p.Arg131Gly
NM_001043351.1:c.391C>G NP_001036816.1:p.Arg131Gly
Summary

MGeND

Clinical significance Likely pathogenic
Variant entry 1
GWAS entry
Disease area statistics Show details

Frequency

[No Data.]

Prediction

ClinVar

Clinical Significance Pathogenic Likely pathogenic
Review star
Show details
Links
Type Database ID Link
Gene MIM 191030 OMIM
HGNC 12012 HGNC
Ensembl ENSG00000143549 Ensembl
NCBI NCBI
Gene Cards Gene Cards
OncoKB OncoKB
Type Database ID Link
Variant TogoVar
COSMIC
MONDO
Disease area statistics
MGeND
Clinical significance Last evaluated Condition Origin Submission ID Submitter Institute Citation Comment Image
Likely pathogenic other germline MGS000074
(TMGS000150) 		Kenjiro Kosaki
Nishino Ichizo		 Keio University
National Center of Neurology and Psychiatry
ClinVar
Clinical significance Last evaluated Review status Condition Origin Links
not provided no assertion provided Congenital myopathy with fiber type disproportion unknown Detail
Pathogenic 2017-04-27 criteria provided, single submitter not provided germline not provided Detail
Likely pathogenic 2015-12-01 criteria provided, single submitter Congenital myopathy 4B, autosomal recessive unknown Detail
Pathogenic 2023-04-12 criteria provided, single submitter Congenital myopathy 4B, autosomal recessive,Congenital myopathy with fiber type disproportion germline Detail
Pathogenic 2023-04-12 criteria provided, single submitter Congenital myopathy 4B, autosomal recessive,Congenital myopathy with fiber type disproportion germline Detail
Pathogenic 2008-03-01 no assertion criteria provided Congenital myopathy 4A, autosomal dominant germline Detail
CIViC
[No Data.]
DisGeNET
Score Disease name Description Source Pubmed Links
0.361 Congenital Fiber Type Disproportion NA CLINVAR Detail
0.361 Congenital Fiber Type Disproportion Congenital fiber type disproportion with delayed fiber type maturation and the a... BeFree 23924754 Detail
Annotation

Annotations

DescrptionSourceLinks
NM_152263.4(TPM3):c.502C>G (p.Arg168Gly) AND Congenital myopathy with fiber type disproportion ClinVar Detail
NM_152263.4(TPM3):c.502C>G (p.Arg168Gly) AND not provided ClinVar Detail
NM_152263.4(TPM3):c.502C>G (p.Arg168Gly) AND Congenital myopathy 4B, autosomal recessive ClinVar Detail
NM_152263.4(TPM3):c.502C>G (p.Arg168Gly) AND multiple conditions ClinVar Detail
NM_152263.4(TPM3):c.502C>G (p.Arg168Gly) AND multiple conditions ClinVar Detail
NM_152263.4(TPM3):c.502C>G (p.Arg168Gly) AND Congenital myopathy 4A, autosomal dominant ClinVar Detail
NA DisGeNET Detail
Congenital fiber type disproportion with delayed fiber type maturation and the appearance of cap str... DisGeNET Detail

Overlapped Transcript Coordinates

Gene Transcript ID Exon Number Chromosome Start Stop Type Amino Mutation Transcript Position Links

Overlapped Transcript

Gene Transcript ID Chromosome Start Stop Links
Gene
-
dbSNP
rs121964854 dbSNP
Genome
hg38
Position
chr1:154,172,972-154,172,972
Variant Type
snv
Reference Allele
G
Alternative Allele
C
Genome browser