NM_017882.2(CLN6):c.308G>A (p.Arg103Gln) AND not provided

Clinical significance:not provided

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

no assertion provided

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000058911.1

Allele description [Variation Report for NM_017882.2(CLN6):c.308G>A (p.Arg103Gln)]

NM_017882.2(CLN6):c.308G>A (p.Arg103Gln)

Gene:
CLN6:CLN6, transmembrane ER protein [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
15q23
Genomic location:
Preferred name:
NM_017882.2(CLN6):c.308G>A (p.Arg103Gln)
HGVS:
  • NC_000015.10:g.68211853C>T
  • NG_008764.2:g.50359G>A
  • NM_017882.2:c.308G>A
  • NP_060352.1:p.Arg103Gln
  • NC_000015.9:g.68504191C>T
  • NG_008764.1:g.22890G>A
  • Q9NWW5:p.Arg103Gln
Protein change:
R103Q; Arg103Gln
Links:
UniProtKB: Q9NWW5#VAR_065839; OMIM: 606725.0012; dbSNP: rs154774634
NCBI 1000 Genomes Browser:
rs154774634
Allele Frequency:
0.00003(T)
Molecular consequence:
  • NM_017882.2:c.308G>A - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Identifiers:
MedGen: CN517202

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000090432SNPediano assertion providednot providedgermlinenot provided

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

Description

Kufs Type A disease

SCV000090432

Summary from all submissions

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

Citations

PubMed

Kufs disease, the major adult form of neuronal ceroid lipofuscinosis, caused by mutations in CLN6.

Arsov T, Smith KR, Damiano J, Franceschetti S, Canafoglia L, Bromhead CJ, Andermann E, Vears DF, Cossette P, Rajagopalan S, McDougall A, Sofia V, Farrell M, Aguglia U, Zini A, Meletti S, Morbin M, Mullen S, Andermann F, Mole SE, Bahlo M, Berkovic SF.

Am J Hum Genet. 2011 May 13;88(5):566-73. doi: 10.1016/j.ajhg.2011.04.004. Epub 2011 May 5.

PubMed [citation]
PMID:
21549341
PMCID:
PMC3146726

Details of each submission

From SNPedia, SCV000090432.1

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

Last Updated: Sep 8, 2018