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NM_001080414.4(CCDC88C):c.6026C>T (p.Pro2009Leu) AND Spinocerebellar ataxia type 40

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Jul 22, 2021
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria 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:
RCV001849184.2

Allele description [Variation Report for NM_001080414.4(CCDC88C):c.6026C>T (p.Pro2009Leu)]

NM_001080414.4(CCDC88C):c.6026C>T (p.Pro2009Leu)

Gene:
CCDC88C:coiled-coil domain containing 88C [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
14q32.11
Genomic location:
Preferred name:
NM_001080414.4(CCDC88C):c.6026C>T (p.Pro2009Leu)
HGVS:
  • NC_000014.9:g.91272686G>A
  • NG_033118.2:g.150159C>T
  • NM_001080414.4:c.6026C>TMANE SELECT
  • NP_001073883.2:p.Pro2009Leu
  • NC_000014.8:g.91739030G>A
  • NG_033118.1:g.150159C>T
  • NM_001080414.3:c.6026C>T
Protein change:
P2009L
Links:
dbSNP: rs201940261
NCBI 1000 Genomes Browser:
rs201940261
Molecular consequence:
  • NM_001080414.4:c.6026C>T - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Spinocerebellar ataxia type 40
Identifiers:
MONDO: MONDO:0014475; MedGen: C4518336; Orphanet: 423275; OMIM: 616053

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV001960866O&I group, Department of Genetics, University Medical Center of Groningen
no assertion criteria provided
Uncertain significance
(Jul 22, 2021) 		unknownresearch

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedunknownunknownnot providednot providednot providednot providednot providedresearch

Details of each submission

From O&I group, Department of Genetics, University Medical Center of Groningen, SCV001960866.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedresearchnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1unknownunknownnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Nov 18, 2024