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NM_000391.4(TPP1):c.617G>A (p.Arg206His) AND Neuronal ceroid lipofuscinosis 2

Germline classification:
not provided (1 submission)
Review status:
no classification provided
Somatic classification
of clinical impact:
None
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Somatic classification
of oncogenicity:
None
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Record status:
current
Accession:
RCV000059630.2

Allele description [Variation Report for NM_000391.4(TPP1):c.617G>A (p.Arg206His)]

NM_000391.4(TPP1):c.617G>A (p.Arg206His)

Gene:
TPP1:tripeptidyl peptidase 1 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
11p15.4
Genomic location:
Preferred name:
NM_000391.4(TPP1):c.617G>A (p.Arg206His)
HGVS:
  • NC_000011.10:g.6617045C>T
  • NG_008653.1:g.7417G>A
  • NM_000391.4:c.617G>AMANE SELECT
  • NP_000382.3:p.Arg206His
  • LRG_830t1:c.617G>A
  • LRG_830:g.7417G>A
  • LRG_830p1:p.Arg206His
  • NC_000011.9:g.6638276C>T
  • NM_000391.3:c.617G>A
  • O14773:p.Arg206His
Protein change:
R206H
Links:
UniProtKB: O14773#VAR_016792; UniProtKB/Swiss-Prot: VAR_016792; dbSNP: rs121908209
NCBI 1000 Genomes Browser:
rs121908209
Molecular consequence:
  • NM_000391.4:c.617G>A - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Neuronal ceroid lipofuscinosis 2
Synonyms:
JANSKY-BIELSCHOWSKY DISEASE NEURONAL CEROID LIPOFUSCINOSIS, LATE INFANTILE; TPP1-Related Neuronal Ceroid-Lipofuscinosis
Identifiers:
MONDO: MONDO:0008769; MedGen: C1876161; Orphanet: 168491; Orphanet: 228349; Orphanet: 79264; OMIM: 204500

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000091198UniProtKB/Swiss-Prot
no classification provided
not providednot providednot provided

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

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providednot providednot providednot providednot providednot provided1not providedliterature only

Citations

PubMed

[Tripeptidyl peptidase 1 deficiency in neuronal ceroid lipofuscinosis. A novel mutation].

Bukina AM, Tsvetkova IV, Semiachkina AN, Il'ina ES.

Vopr Med Khim. 2002 Nov-Dec;48(6):594-8. Russian.

PubMed [citation]
PMID:
12698559

Details of each submission

From UniProtKB/Swiss-Prot, SCV000091198.1

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

Last Updated: Oct 8, 2024