NM_006415.4(SPTLC1):c.560+16G>C AND Neuropathy, hereditary sensory and autonomic, type 1A

Clinical significance:Benign

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:
RCV000609452.1

Allele description [Variation Report for NM_006415.4(SPTLC1):c.560+16G>C]

NM_006415.4(SPTLC1):c.560+16G>C

Gene:
SPTLC1:serine palmitoyltransferase long chain base subunit 1 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
9q22.31
Genomic location:
Preferred name:
NM_006415.4(SPTLC1):c.560+16G>C
HGVS:
  • NC_000009.12:g.92067950C>G
  • NG_007950.1:g.52459G>C
  • NM_001281303.2:c.560+16G>C
  • NM_001368272.1:c.194+16G>C
  • NM_001368273.1:c.95+16G>C
  • NM_006415.4:c.560+16G>CMANE SELECT
  • LRG_272t1:c.560+16G>C
  • LRG_272:g.52459G>C
  • NC_000009.11:g.94830232C>G
  • NM_006415.2:c.560+16G>C
  • NM_006415.3:c.560+16G>C
  • NM_178324.1:c.*11612G>C
Links:
dbSNP: rs73512337
NCBI 1000 Genomes Browser:
rs73512337

Condition(s)

Name:
Neuropathy, hereditary sensory and autonomic, type 1A (HSAN1A)
Synonyms:
NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE IA; HSAN IA; HSN IA; See all synonyms [MedGen]
Identifiers:
MONDO: MONDO:0008086; MedGen: C5235211; OMIM: 162400

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000734721Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen - VKGL Data-share Consensusno assertion criteria providedBenigngermlineclinical testing

Summary from all submissions

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

Details of each submission

From Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen - VKGL Data-share Consensus, SCV000734721.1

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

Last Updated: Nov 27, 2021

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