chr1:156836700:A>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	chr1:156,836,700-156,836,700
hg38	chr1:156,866,908-156,866,908 View the variant detail on this assembly version.

HGVS

NTRK1

Type	Transcript	Protein
RefSeq	NM_001012331.1:c.360-2A>C
	NM_002529.3:c.360-2A>C
	NM_001007792.1:c.198-2A>C
Ensemble	ENST00000674537.2:c.198-2A>C
	ENST00000368196.7:c.360-2A>C
	ENST00000524377.7:c.360-2A>C
	ENST00000392302.7:c.198-2A>C
	ENST00000358660.3:c.360-2A>C

Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics	Show details

Frequency

[No Data.]

Prediction

ClinVar

Clinical Significance	Pathogenic Likely pathogenic
Review star
Show details

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

[No Data.]

MGeND

[No Data.]

ClinVar

Clinical significance	Last evaluated	Review status	Condition	Origin	Links
Pathogenic Likely pathogenic	2023-04-11	criteria provided, multiple submitters, no conflicts	Hereditary insensitivity to pain with anhidrosis	germline maternal	Detail

CIViC

[No Data.]

DisGeNET

Score	Disease name	Description	Source	Pubmed	Links
0.450	HSAN Type IV	NA	CLINVAR		Detail

Annotation

Annotations

Descrption	Source	Links
NM_002529.4(NTRK1):c.360-2A>C AND Hereditary insensitivity to pain with anhidrosis	ClinVar	Detail
NA	DisGeNET	Detail

Overlapped Transcript

Gene	Transcript ID	Chromosome	Start	Stop	Links

Gene: -
dbSNP: rs797045059 dbSNP
Genome: hg19
Position: chr1:156,836,700-156,836,700
Variant Type: snv
Reference Allele: A
Alternative Allele: C

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