NM_017882.3(CLN6):c.766_770del (p.Asp256fs) AND Neuronal ceroid lipofuscinosis 6

Clinical significance:Likely pathogenic (Last evaluated: Apr 2, 2018)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000673735.1

Allele description [Variation Report for NM_017882.3(CLN6):c.766_770del (p.Asp256fs)]

NM_017882.3(CLN6):c.766_770del (p.Asp256fs)

Gene:
CLN6:CLN6 transmembrane ER protein [Gene - OMIM - HGNC]
Variant type:
Deletion
Cytogenetic location:
15q23
Genomic location:
Preferred name:
NM_017882.3(CLN6):c.766_770del (p.Asp256fs)
HGVS:
  • NC_000015.10:g.68208307_68208311del
  • NG_008764.2:g.53902_53906del
  • NM_017882.3:c.766_770delMANE SELECT
  • NP_060352.1:p.Asp256fs
  • LRG_832t1:c.766_770del
  • LRG_832:g.53902_53906del
  • LRG_832p1:p.Asp256fs
  • NC_000015.9:g.68500645_68500649del
  • NM_017882.2:c.766_770del5
Protein change:
D256fs
Links:
dbSNP: rs1555438234
NCBI 1000 Genomes Browser:
rs1555438234
Molecular consequence:
  • NM_017882.3:c.766_770del - frameshift variant - [Sequence Ontology: SO:0001589]

Condition(s)

Name:
Neuronal ceroid lipofuscinosis 6 (CLN6A)
Synonyms:
Neuronal ceroid lipofuscinosis, Gypsy/Indian early juvenile variant; CEROID LIPOFUSCINOSIS, NEURONAL, 6A; CLN6-Related Neuronal Ceroid-Lipofuscinosis
Identifiers:
MONDO: MONDO:0011144; MedGen: C1866282; Orphanet: 168491; OMIM: 601780

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000798972Counsylcriteria provided, single submitter
Likely pathogenic
(Apr 2, 2018)
unknownclinical testing

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

Citation Link

Summary from all submissions

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

Citations

PubMed

Topology and endoplasmic reticulum retention signals of the lysosomal storage disease-related membrane protein CLN6.

Heine C, Quitsch A, Storch S, Martin Y, Lonka L, Lehesjoki AE, Mole SE, Braulke T.

Mol Membr Biol. 2007 Jan-Feb;24(1):74-87.

PubMed [citation]
PMID:
17453415

Details of each submission

From Counsyl, SCV000798972.1

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

Last Updated: Dec 4, 2021

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