NM_001007792.1(NTRK1):c.2098-11G>A AND Inborn genetic diseases

Clinical significance:Likely pathogenic (Last evaluated: Dec 8, 2016)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000624785.1

Allele description [Variation Report for NM_001007792.1(NTRK1):c.2098-11G>A]

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

Gene:
NTRK1:neurotrophic receptor tyrosine kinase 1 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
1q23.1
Genomic location:
Preferred name:
NM_001007792.1(NTRK1):c.2098-11G>A
HGVS:
  • NC_000001.11:g.156881446G>A
  • NG_007493.1:g.70697G>A
  • NM_001007792.1:c.2098-11G>A
  • NM_001012331.1:c.2188-11G>A
  • NM_002529.3:c.2206-11G>A
  • LRG_261t1:c.2098-11G>A
  • LRG_261t2:c.2188-11G>A
  • LRG_261t3:c.2206-11G>A
  • LRG_261:g.70697G>A
  • NC_000001.10:g.156851238G>A
Links:
dbSNP: rs1553263326
NCBI 1000 Genomes Browser:
rs1553263326
Molecular consequence:
  • NM_001007792.1:c.2098-11G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001012331.1:c.2188-11G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_002529.3:c.2206-11G>A - intron variant - [Sequence Ontology: SO:0001627]
Observations:
1

Condition(s)

Name:
Inborn genetic diseases
Identifiers:
MeSH: D030342; MedGen: C0950123

Recent activity

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

See more...

Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000741787Ambry Geneticscriteria provided, single submitter
Likely pathogenic
(Dec 8, 2016)
germlineclinical testing

PubMed (1)
[See all records that cite this PMID]

Citation Link

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
Hispanicgermlineyes1not providednot provided1not providedclinical testing

Citations

PubMed

A novel NTRK1 mutation in a patient with congenital insensitivity to pain with anhidrosis.

Yiş U, Mademan I, Kavukçu S, Baets J.

Acta Neurol Belg. 2015 Sep;115(3):509-11. doi: 10.1007/s13760-014-0405-9. Epub 2014 Dec 18. No abstract available.

PubMed [citation]
PMID:
25519000

Details of each submission

From Ambry Genetics, SCV000741787.2

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1Hispanic1not providednot providedclinical testing PubMed (1)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyes1not providednot provided1not providednot providednot provided

Last Updated: Nov 21, 2020

Support Center