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NM_001007792.1(NTRK1):c.1621G>C (p.Gly541Arg)

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Interpretation:
Pathogenic​

Review status:
no assertion criteria provided
Submissions:
1 (Most recent: Dec 30, 2010)
Last evaluated:
Dec 1, 2001
Accession:
VCV000012302.4
Variation ID:
12302
Description:
single nucleotide variant
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NM_001007792.1(NTRK1):c.1621G>C (p.Gly541Arg)

Allele ID
27341
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
1q23.1
Genomic location
1: 156876496 (GRCh38) GRCh38 UCSC
1: 156846288 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000001.10:g.156846288G>C
NC_000001.11:g.156876496G>C
NM_001007792.1:c.1621G>C NP_001007793.1:p.Gly541Arg missense
... more HGVS
Protein change
G571R, G541R, G577R
Other names
-
Canonical SPDI
NC_000001.11:156876495:G:C
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
-
Links
ClinGen: CA256262
OMIM: 191315.0003
dbSNP: rs121964866
VarSome
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Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Pathogenic 1 no assertion criteria provided Dec 1, 2001 RCV000013096.19
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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
Pathogenic
(Dec 01, 2001)
no assertion criteria provided
Method: literature only
INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS
Allele origin: germline
OMIM
Accession: SCV000033342.3
Submitted: (Dec 30, 2010)
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
Molecular basis of congenital insensitivity to pain with anhidrosis (CIPA): mutations and polymorphisms in TRKA (NTRK1) gene encoding the receptor tyrosine kinase for nerve growth factor. Indo Y Human mutation 2001 PMID: 11748840

Text-mined citations for rs121964866...

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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 Oct 23, 2020