chr1:156881590:G>A Detail (hg38) (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	chr1:156,851,382-156,851,382 View the variant detail on this assembly version.
hg38	chr1:156,881,590-156,881,590

HGVS

NTRK1

Type	Transcript	Protein
RefSeq	NM_001012331.1:c.2321G>A	NP_001012331.1:p.Arg774Gln
	NM_001007792.1:c.2159G>A	NP_001007793.1:p.Arg720Gln
	NM_002529.3:c.2339G>A	NP_002520.2:p.Arg780Gln
Ensemble	ENST00000358660.3:c.2330G>A	ENST00000358660.3:p.Arg777Gln
	ENST00000368196.7:c.2321G>A	ENST00000368196.7:p.Arg774Gln
	ENST00000392302.7:c.2159G>A	ENST00000392302.7:p.Arg720Gln
	ENST00000524377.7:c.2339G>A	ENST00000524377.7:p.Arg780Gln
	ENST00000674537.2:c.2159G>A	ENST00000674537.2:p.Arg720Gln

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	Conflicting classifications of pathogenicity
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	tgv302027288	TogoVar
	COSMIC
	MONDO

Disease area statistics

[No Data.]

MGeND

[No Data.]

ClinVar

Clinical significance	Last evaluated	Review status	Condition	Origin	Links
Benign Likely benign	2024-03-01	criteria provided, multiple submitters, no conflicts	not provided	germline	Detail
Benign Likely benign	2021-12-10	criteria provided, multiple submitters, no conflicts	not specified	germline	Detail
Conflicting interpretations of pathogenicity	2024-01-31	criteria provided, conflicting interpretations	Hereditary insensitivity to pain with anhidrosis	germline unknown	Detail
Likely benign	2019-06-11	criteria provided, single submitter	NTRK1-related disorder	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	A novel NTRK1 mutation associated with congenital insensitivity to pain with anh...	UNIPROT	10090906	Detail

Annotation

Annotations

Descrption	Source	Links
NM_002529.4(NTRK1):c.2339G>A (p.Arg780Gln) AND not provided	ClinVar	Detail
NM_002529.4(NTRK1):c.2339G>A (p.Arg780Gln) AND not specified	ClinVar	Detail
NM_002529.4(NTRK1):c.2339G>A (p.Arg780Gln) AND Hereditary insensitivity to pain with anhidrosis	ClinVar	Detail
NM_002529.4(NTRK1):c.2339G>A (p.Arg780Gln) AND NTRK1-related disorder	ClinVar	Detail
NA	DisGeNET	Detail
A novel NTRK1 mutation associated with congenital insensitivity to pain with anhidrosis.	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: rs35669708 dbSNP
Genome: hg38
Position: chr1:156,881,590-156,881,590
Variant Type: snv
Reference Allele: G
Alternative Allele: A
East Asian Chromosome Counts (ExAC): 6674
East Asian Allele Counts (ExAC): 0
East Asian Heterozygous Counts (ExAC): 0
East Asian Homozygous Counts (ExAC): 0
East Asian Allele Frequency (ExAC): 0.0
Chromosome Counts in All Race (ExAC): 88550
Allele Counts in All Race (ExAC): 571
Heterozygous Counts in All Race (ExAC): 563
Homozygous Counts in All Race (ExAC): 4
Allele Frequency in All Race (ExAC): 0.0064483342744212305

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