chr1:154140417:C>G Detail (hg19) (TPM3)

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Summary
Information
Links
Disease area statistics
MGeND
ClinVar
CIViC
DisGeNET
Annotation
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Information

Genome

Assembly	Position
hg19	chr1:154,140,417-154,140,417
hg38	chr1:154,167,941-154,167,941 View the variant detail on this assembly version.

HGVS

TPM3

Type	Transcript	Protein
RefSeq	NM_001043351.1:c.664+2459G>C
	NM_001043353.1:c.664+2459G>C
	NM_001278189.1:c.743+1364G>C
	NM_152263.3:c.855-1G>C
	NM_001278190.1:c.601+2459G>C
	NM_001043352.1:c.664+2459G>C
	NM_001278188.1:c.664+2459G>C
	NM_153649.3:c.664+2459G>C
	NR_103461.1:c.664+2459G>C
	NM_001278191.1:c.394+2459G>C
Ensemble	ENST00000323144.12:c.664+2459G>C
	ENST00000330188.13:c.664+2459G>C
	ENST00000328159.9:c.743+1364G>C
	ENST00000271850.11:c.775+2459G>C
	ENST00000368530.7:c.855-1G>C
	ENST00000651641.1:c.855-1G>C
	ENST00000611659.5:c.601+2459G>C
	ENST00000368533.8:c.664+2459G>C
	ENST00000302206.9:c.394+2459G>C
	ENST00000368531.6:c.664+2459G>C

Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics	Show details

Frequency

[No Data.]

Prediction

ClinVar

Clinical Significance
Review star	[No Data.]
Show details

Links

TPM3

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

[No Data.]

CIViC

[No Data.]

DisGeNET

Score	Disease name	Description	Source	Pubmed	Links
0.360	nemaline myopathy 1	NA	CLINVAR		Detail

Annotation

Annotations

Descrption	Source	Links
NA	DisGeNET	Detail

Overlapped Transcript

Gene	Transcript ID	Chromosome	Start	Stop	Links

Gene: -
dbSNP: rs113605263 dbSNP
Genome: hg19
Position: chr1:154,140,417-154,140,417
Variant Type: snv
Reference Allele: C
Alternative Allele: G

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