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NM_002739.5(PRKCG):c.76A>G (p.Arg26Gly) AND Spinocerebellar ataxia type 14

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:
RCV000035003.4

Allele description [Variation Report for NM_002739.5(PRKCG):c.76A>G (p.Arg26Gly)]

NM_002739.5(PRKCG):c.76A>G (p.Arg26Gly)

Gene:
PRKCG:protein kinase C gamma [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
19q13.42
Genomic location:
Preferred name:
NM_002739.5(PRKCG):c.76A>G (p.Arg26Gly)
HGVS:
  • NC_000019.10:g.53882570A>G
  • NG_009114.1:g.5358A>G
  • NM_001316329.2:c.76A>G
  • NM_002739.5:c.76A>GMANE SELECT
  • NP_001303258.1:p.Arg26Gly
  • NP_002730.1:p.Arg26Gly
  • LRG_669:g.5358A>G
  • NC_000019.9:g.54385824A>G
Nucleotide change:
c.76a>g
Protein change:
R26G
Links:
dbSNP: rs386134157
NCBI 1000 Genomes Browser:
rs386134157
Molecular consequence:
  • NM_001316329.2:c.76A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_002739.5:c.76A>G - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Spinocerebellar ataxia type 14 (SCA14)
Synonyms:
Spinocerebellar Ataxia Type14
Identifiers:
MONDO: MONDO:0011540; MedGen: C1854369; Orphanet: 98763; OMIM: 605361

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000058642GeneReviews
no classification provided
not providedgermlineliterature only

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

Summary from all submissions

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

Citations

PubMed

Spinocerebellar Ataxia Type 14.

Chen DH, Bird TD, Raskind WH.

2005 Jan 28 [updated 2020 Feb 20]. In: Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Amemiya A, editors. GeneReviews(®) [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2024.

PubMed [citation]
PMID:
20301573

Details of each submission

From GeneReviews, SCV000058642.4

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

Last Updated: Oct 8, 2022