NM_000271.5(NPC1):c.3289G>A (p.Asp1097Asn) AND not provided

Clinical significance:Likely pathogenic (Last evaluated: Jun 6, 2018)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000733557.1

Allele description [Variation Report for NM_000271.5(NPC1):c.3289G>A (p.Asp1097Asn)]

NM_000271.5(NPC1):c.3289G>A (p.Asp1097Asn)

Gene:
NPC1:NPC intracellular cholesterol transporter 1 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
18q11.2
Genomic location:
Preferred name:
NM_000271.5(NPC1):c.3289G>A (p.Asp1097Asn)
HGVS:
  • NC_000018.10:g.23535657C>T
  • NG_012795.1:g.55961G>A
  • NM_000271.5:c.3289G>AMANE SELECT
  • NP_000262.2:p.Asp1097Asn
  • NC_000018.9:g.21115621C>T
Protein change:
D1097N
Links:
dbSNP: rs758829443
NCBI 1000 Genomes Browser:
rs758829443
Molecular consequence:
  • NM_000271.5:c.3289G>A - missense variant - [Sequence Ontology: SO:0001583]
Observations:
1

Condition(s)

Identifiers:
MedGen: CN517202

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000861636EGL Genetic Diagnostics, Eurofins Clinical Diagnosticscriteria provided, single submitter
Likely pathogenic
(Jun 6, 2018)
germlineclinical testing

PubMed (3)
[See all records that cite these PMIDs]

Citation Link

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknown1not providednot providednot providednot providedclinical testing

Citations

PubMed

Niemann-Pick C disease: use of denaturing high performance liquid chromatography for the detection of NPC1 and NPC2 genetic variations and impact on management of patients and families.

Millat G, Baïlo N, Molinero S, Rodriguez C, Chikh K, Vanier MT.

Mol Genet Metab. 2005 Sep-Oct;86(1-2):220-32.

PubMed [citation]
PMID:
16126423

Observational cohort study of the natural history of Niemann-Pick disease type C in the UK: a 5-year update from the UK clinical database.

Imrie J, Heptinstall L, Knight S, Strong K.

BMC Neurol. 2015 Dec 15;15:257. doi: 10.1186/s12883-015-0511-1.

PubMed [citation]
PMID:
26666848
PMCID:
PMC4678528
See all PubMed Citations (3)

Details of each submission

From EGL Genetic Diagnostics, Eurofins Clinical Diagnostics, SCV000861636.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided1not providednot providedclinical testing PubMed (3)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot provided1not providednot providednot provided

Last Updated: Nov 27, 2021

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