NM_002529.4(NTRK1):c.520A>G (p.Lys174Glu) AND Hereditary insensitivity to pain with anhidrosis

Clinical significance:Uncertain significance (Last evaluated: Aug 14, 2020)

Review status:(0/4) 0 stars out of maximum of 4 stars

no assertion criteria provided

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV001279997.1

Allele description [Variation Report for NM_002529.4(NTRK1):c.520A>G (p.Lys174Glu)]

NM_002529.4(NTRK1):c.520A>G (p.Lys174Glu)

Gene:
NTRK1:neurotrophic receptor tyrosine kinase 1 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
1q23.1
Genomic location:
Preferred name:
NM_002529.4(NTRK1):c.520A>G (p.Lys174Glu)
HGVS:
  • NC_000001.11:g.156868195A>G
  • NG_007493.1:g.57446A>G
  • NM_001007792.1:c.430A>G
  • NM_001012331.2:c.520A>G
  • NM_002529.4:c.520A>GMANE SELECT
  • NP_001007793.1:p.Lys144Glu
  • NP_001012331.1:p.Lys174Glu
  • NP_002520.2:p.Lys174Glu
  • LRG_261t1:c.430A>G
  • LRG_261t2:c.520A>G
  • LRG_261:g.57446A>G
  • LRG_261p1:p.Lys144Glu
  • NC_000001.10:g.156837987A>G
  • NM_001012331.1:c.520A>G
Protein change:
K144E
Molecular consequence:
  • NM_001007792.1:c.430A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001012331.2:c.520A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_002529.4:c.520A>G - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Hereditary insensitivity to pain with anhidrosis (CIPA)
Synonyms:
FAMILIAL DYSAUTONOMIA, TYPE II; Insensitivity to pain, congenital, with anhidrosis; Neuropathy, congenital sensory, with anhidrosis; See all synonyms [MedGen]
Identifiers:
MONDO: MONDO:0009746; MedGen: C0020074; Orphanet: 642; OMIM: 256800

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
SCV001467139Natera, Inc.no assertion criteria providedUncertain significance
(Aug 14, 2020)
germlineclinical testing

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknownnot providednot providednot providednot providednot providedclinical testing

Details of each submission

From Natera, Inc., SCV001467139.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Jan 2, 2021

Support Center