chr1:154140416:T> Detail (hg19) (TPM3)

Information

Genome

Assembly Position
hg19 chr1:154,140,416-154,140,416
hg38 chr1:154,167,940-154,167,940 

HGVS

Type Transcript Protein
RefSeq NM_001278190.1:c.601+2460delA
NM_001278191.1:c.394+2460delA
NM_001043352.1:c.664+2460delA
Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics Show details

Frequency

[No Data.]

Prediction

ClinVar

Clinical Significance 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
[No Data.]
MGeND
[No Data.]
ClinVar
Clinical significance Last evaluated Review status Condition Origin Links
Pathogenic 2008-09-01 no assertion criteria provided Congenital myopathy 4B, autosomal recessive germline Detail
not provided no assertion provided not provided germline Detail
CIViC
[No Data.]
DisGeNET
Score Disease name Description Source Pubmed Links
0.360 nemaline myopathy 1 NA CLINVAR Detail
Annotation

Annotations

DescrptionSourceLinks
NM_152263.4(TPM3):c.855del (p.Ter286AsnextTer?) AND Congenital myopathy 4B, autosomal recessive ClinVar Detail
NM_152263.4(TPM3):c.855del (p.Ter286AsnextTer?) 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
rs199474719 dbSNP
Genome
hg19
Position
chr1:154,140,416-154,140,416
Variant Type
snv
Reference Allele
T
Alternative Allele
-
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