chr1:154142918:T>C Detail (hg19) (TPM3)

Information

Genome

Assembly Position
hg19 chr1:154,142,918-154,142,918
hg38 chr1:154,170,442-154,170,442 View the variant detail on this assembly version.

HGVS

Type Transcript Protein
RefSeq NM_001278189.1:c.622A>G NP_001265118.1:p.Arg208Gly
NM_001043351.1:c.622A>G NP_001036816.1:p.Arg208Gly
NM_001043353.1:c.622A>G NP_001036818.1:p.Arg208Gly
Summary

MGeND

Clinical significance Pathogenic
Variant entry 1
GWAS entry
Disease area statistics Show details

Frequency

[No Data.]

Prediction

ClinVar

Clinical Significance not provided
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
Pathogenic CFTD germline MGS000009
(TMGS000039) 		Shoji Tsuji Tokyo University
ClinVar
Clinical significance Last evaluated Review status Condition Origin Links
not provided no assertion provided Congenital myopathy with fiber type disproportion unknown Detail
not provided no assertion provided not provided not provided Detail
CIViC
[No Data.]
DisGeNET
Score Disease name Description Source Pubmed Links
0.361 Congenital Fiber Type Disproportion NA CLINVAR Detail
Annotation

Annotations

DescrptionSourceLinks
NM_152263.4(TPM3):c.733A>G (p.Arg245Gly) AND Congenital myopathy with fiber type disproportion ClinVar Detail
NM_152263.4(TPM3):c.733A>G (p.Arg245Gly) AND not provided ClinVar Detail
NA 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
rs199474718 dbSNP
Genome
hg19
Position
chr1:154,142,918-154,142,918
Variant Type
snv
Reference Allele
T
Alternative Allele
C
Genome browser