chr1:156846288:G>A 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_001007792.1:c.1549G>A	NP_001007793.1:p.Gly517Ser
	NM_001012331.1:c.1711G>A	NP_001012331.1:p.Gly571Ser
	NM_002529.3:c.1729G>A	NP_002520.2:p.Gly577Ser
Ensemble	ENST00000674537.2:c.1549G>A	ENST00000674537.2:p.Gly517Ser
	ENST00000392302.7:c.1549G>A	ENST00000392302.7:p.Gly517Ser
	ENST00000358660.3:c.1720G>A	ENST00000358660.3:p.Gly574Ser
	ENST00000368196.7:c.1711G>A	ENST00000368196.7:p.Gly571Ser
	ENST00000524377.7:c.1729G>A	ENST00000524377.7:p.Gly577Ser

Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics	Show details

Frequency

JP	HGVD:[No Data.]
	ToMMo:[No Data.]
	NCBN:[No Data.]
	NCBN(Hondo):[No Data.]
	NCBN(Ryukyu):[No Data.]
East asia	ExAC:<0.001

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

[No Data.]

MGeND

[No Data.]

ClinVar

Clinical significance	Last evaluated	Review status	Condition	Origin	Links
Pathogenic	2023-11-01	criteria provided, single submitter	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>A (p.Gly577Ser) 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: -
Genome: hg19
Position: chr1:156,846,288-156,846,288
Variant Type: snv
Reference Allele: G
Alternative Allele: A
East Asian Chromosome Counts (ExAC): 8528
East Asian Allele Counts (ExAC): 1
East Asian Heterozygous Counts (ExAC): 1
East Asian Homozygous Counts (ExAC): 0
East Asian Allele Frequency (ExAC): 1.1726078799249531E-4
Chromosome Counts in All Race (ExAC): 117640
Allele Counts in All Race (ExAC): 4
Heterozygous Counts in All Race (ExAC): 4
Homozygous Counts in All Race (ExAC): 0
Allele Frequency in All Race (ExAC): 3.400204012240735E-5

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