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NM_001007792.1(NTRK1):c.2098-11G>A

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Interpretation:
Likely pathogenic​

Review status:
criteria provided, single submitter
Submissions:
1 (Most recent: Oct 9, 2020)
Last evaluated:
Dec 8, 2016
Accession:
VCV000521285.2
Variation ID:
521285
Description:
single nucleotide variant
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NM_001007792.1(NTRK1):c.2098-11G>A

Allele ID
511182
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
1q23.1
Genomic location
1: 156881446 (GRCh38) GRCh38 UCSC
1: 156851238 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
LRG_261t1:c.2098-11G>A
NC_000001.10:g.156851238G>A
NC_000001.11:g.156881446G>A
... more HGVS
Protein change
-
Other names
-
Canonical SPDI
NC_000001.11:156881445:G:A
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
-
Links
ClinGen: CA658795536
dbSNP: rs1553263326
VarSome
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Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Likely pathogenic 1 criteria provided, single submitter Dec 8, 2016 RCV000624785.1

Clinical features observed in individuals with this variant

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Gene OMIM ClinGen Gene Dosage Sensitivity Curation Variation viewer Related variants
HI score Help TS score Help Within gene All
NTRK1 - - GRCh38
GRCh37
677 723

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Likely pathogenic
(Dec 08, 2016)
criteria provided, single submitter
Method: clinical testing
Inborn genetic diseases
Allele origin: germline
Ambry Genetics
Accession: SCV000741787.2
Submitted: (Oct 09, 2020)
Evidence details
Publications
PubMed (1)

Functional evidence

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There is no functional evidence in ClinVar for this variation. If you have generated functional data for this variation, please consider submitting that data to ClinVar.

Citations for this variant

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Title Author Journal Year Link
A novel NTRK1 mutation in a patient with congenital insensitivity to pain with anhidrosis. Yiş U Acta neurologica Belgica 2015 PMID: 25519000

Text-mined citations for rs1553263326...

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These citations are identified by LitVar using the rs number, so they may include citations for more than one variant at this location. Please review the LitVar results carefully for your variant of interest.

Record last updated Nov 21, 2020