NM_006432.4(NPC2):c.199T>C (p.Ser67Pro) AND Niemann-Pick disease, type C2

Clinical significance:Pathogenic (Last evaluated: Jul 22, 2008)

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

no assertion criteria provided

Based on:
2 submissions [Details]
Record status:
current
Accession:
RCV000009003.3

Allele description [Variation Report for NM_006432.4(NPC2):c.199T>C (p.Ser67Pro)]

NM_006432.4(NPC2):c.199T>C (p.Ser67Pro)

Gene:
NPC2:NPC intracellular cholesterol transporter 2 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
14q24.3
Genomic location:
Preferred name:
NM_006432.4(NPC2):c.199T>C (p.Ser67Pro)
HGVS:
  • NC_000014.9:g.74484579A>G
  • NG_007117.1:g.13803T>C
  • NM_001363688.1:c.199T>C
  • NM_006432.4:c.199T>C
  • NP_001350617.1:p.Ser67Pro
  • NP_006423.1:p.Ser67Pro
  • NC_000014.8:g.74951282A>G
  • NM_006432.3:c.199T>C
  • P61916:p.Ser67Pro
Protein change:
S67P; SER67PRO
Links:
UniProtKB: P61916#VAR_015849; OMIM: 601015.0006; dbSNP: rs11694
NCBI 1000 Genomes Browser:
rs11694
Molecular consequence:
  • NM_001363688.1:c.199T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_006432.4:c.199T>C - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Niemann-Pick disease, type C2 (NPC2)
Identifiers:
MONDO: MONDO:0011873; MedGen: C1843366; Orphanet: 646; OMIM: 607625

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000029217OMIMno assertion criteria providedPathogenic
(Nov 1, 2001)
germlineliterature only

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

SCV000041169GeneReviewsno assertion criteria providedpathologic
(Jul 22, 2008)
not providedcuration

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlinenot providednot providednot providednot providednot providednot providedliterature only
not providednot providednot providednot providednot providednot providednot providednot providedcuration

Citations

PubMed

Niemann-Pick disease type C: spectrum of HE1 mutations and genotype/phenotype correlations in the NPC2 group.

Millat G, Chikh K, Naureckiene S, Sleat DE, Fensom AH, Higaki K, Elleder M, Lobel P, Vanier MT.

Am J Hum Genet. 2001 Nov;69(5):1013-21. Epub 2001 Sep 20.

PubMed [citation]
PMID:
11567215
PMCID:
PMC1274348

Details of each submission

From OMIM, SCV000029217.2

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedliterature only PubMed (1)

Description

In a Turkish NPC2 (607625) patient, Millat et al. (2001) detected homozygosity for a T-to-C transition at nucleotide 199 of the HE1 gene, resulting in a ser67-to-pro (S67P) amino acid change.

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlinenot providednot providednot providednot providednot providednot providednot providednot provided

From GeneReviews, SCV000041169.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedcurationnot provided

Description

Converted during submission to Pathogenic.

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1not providednot providednot providednot providedAssert pathogenicitynot providednot providednot providednot provided

Last Updated: Apr 12, 2021

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