chr1:156846288:G>C Detail (hg19) (NTRK1)

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

Genome

Assembly	Position
hg19	chr1:156,846,288-156,846,288
hg38	chr1:156,876,496-156,876,496 View the variant detail on this assembly version.

HGVS

NTRK1

Type	Transcript	Protein
RefSeq	NM_002529.3:c.1729G>C	NP_002520.2:p.Gly577Arg
	NM_001012331.1:c.1711G>C	NP_001012331.1:p.Gly571Arg
	NM_001007792.1:c.1549G>C	NP_001007793.1:p.Gly517Arg
Ensemble	ENST00000524377.7:c.1729G>C	ENST00000524377.7:p.Gly577Arg
	ENST00000368196.7:c.1711G>C	ENST00000368196.7:p.Gly571Arg
	ENST00000392302.7:c.1549G>C	ENST00000392302.7:p.Gly517Arg
	ENST00000358660.3:c.1720G>C	ENST00000358660.3:p.Gly574Arg
	ENST00000674537.2:c.1549G>C	ENST00000674537.2:p.Gly517Arg

Summary

MGeND

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

Frequency

[No Data.]

Prediction

ClinVar

Clinical Significance	Pathogenic
Review star
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Links

NTRK1

Type	Database	ID	Link
Gene	MIM	191315	OMIM
	HGNC	8031	HGNC
	Ensembl	ENSG00000198400	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		other	germline	MGS000001 (TMGS000138)	Kenjiro Kosaki	Keio University

ClinVar

Clinical significance	Last evaluated	Review status	Condition	Origin	Links
Pathogenic	2001-12-01	no assertion criteria provided	Hereditary insensitivity to pain with anhidrosis	germline	Detail

CIViC

[No Data.]

DisGeNET

Score	Disease name	Description	Source	Pubmed	Links
0.450	HSAN Type IV	NA	CLINVAR		Detail
0.450	HSAN Type IV	To define the defect of NTRK1 in CIPA patients, we have introduced one of the pr...	BeFree	10567924	Detail

Annotation

Annotations

Descrption	Source	Links
NM_002529.4(NTRK1):c.1729G>C (p.Gly577Arg) AND Hereditary insensitivity to pain with anhidrosis	ClinVar	Detail
NA	DisGeNET	Detail
To define the defect of NTRK1 in CIPA patients, we have introduced one of the previously reported mu...	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: rs121964866 dbSNP
Genome: hg19
Position: chr1:156,846,288-156,846,288
Variant Type: snv
Reference Allele: G
Alternative Allele: C

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