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NM_002529.3(NTRK1):c.1550G>A (p.Gly517Glu)

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Interpretation:
Pathogenic​

Review status:
no assertion criteria provided
Submissions:
1 (Most recent: Dec 4, 2014)
Last evaluated:
Oct 31, 2014
Accession:
VCV000161443.4
Variation ID:
161443
Description:
single nucleotide variant
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NM_002529.3(NTRK1):c.1550G>A (p.Gly517Glu)

Allele ID
171279
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
1q23.1
Genomic location
1: 156876128 (GRCh38) GRCh38 UCSC
1: 156845920 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000001.10:g.156845920G>A
NC_000001.11:g.156876128G>A
NM_001012331.1:c.1532G>A NP_001012331.1:p.Gly511Glu missense
... more HGVS
Protein change
G517E, G511E
Other names
-
Canonical SPDI
NC_000001.11:156876127:G:A
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
Trans-Omics for Precision Medicine (TOPMed) 0.00001
The Genome Aggregation Database (gnomAD), exomes 0.00000
Links
ClinGen: CA272998
UniProtKB: P04629#VAR_077472
OMIM: 191315.0015
dbSNP: rs606231467
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 Oct 31, 2014 RCV000148946.5
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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
(Oct 31, 2014)
no assertion criteria provided
Method: literature only
INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS
Allele origin: germline
OMIM
Accession: SCV000195863.2
Submitted: (Dec 04, 2014)
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
Innate immunity. A Spaetzle-like role for nerve growth factor β in vertebrate immunity to Staphylococcus aureus. Hepburn L Science (New York, N.Y.) 2014 PMID: 25359976

Text-mined citations for rs606231467...

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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 Aug 06, 2020