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NM_177559.3(CSNK2A1):c.239G>A (p.Arg80His) AND CSNK2A1- Related Disorders

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:
RCV000509105.4

Allele description [Variation Report for NM_177559.3(CSNK2A1):c.239G>A (p.Arg80His)]

NM_177559.3(CSNK2A1):c.239G>A (p.Arg80His)

Gene:
CSNK2A1:casein kinase 2 alpha 1 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
20p13
Genomic location:
Preferred name:
NM_177559.3(CSNK2A1):c.239G>A (p.Arg80His)
HGVS:
  • NC_000020.11:g.499909C>T
  • NG_011970.2:g.48930G>A
  • NM_001362770.2:c.239G>A
  • NM_001362771.2:c.239G>A
  • NM_001895.4:c.239G>A
  • NM_177559.3:c.239G>AMANE SELECT
  • NM_177560.3:c.-170G>A
  • NP_001349699.1:p.Arg80His
  • NP_001349700.1:p.Arg80His
  • NP_001886.1:p.Arg80His
  • NP_808227.1:p.Arg80His
  • NC_000020.10:g.480553C>T
  • NG_011970.1:g.48930G>A
  • NM_177559.2:c.239G>A
Protein change:
R80H
Links:
dbSNP: rs1057518092
NCBI 1000 Genomes Browser:
rs1057518092
Molecular consequence:
  • NM_177560.3:c.-170G>A - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_001362770.2:c.239G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001362771.2:c.239G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001895.4:c.239G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_177559.3:c.239G>A - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
CSNK2A1- Related Disorders
Identifiers:

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000606973GenomeConnect, ClinGen
no classification provided
not providedde novophenotyping only

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedde novoyesnot providednot providednot providednot providednot providedphenotyping only

Details of each submission

From GenomeConnect, ClinGen, SCV000606973.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedphenotyping onlynot provided

Description

GenomeConnect assertions are reported exactly as they appear on the patient-provided report from the testing laboratory. GenomeConnect staff make no attempt to reinterpret the clinical significance of the variant.

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1de novoyesnot providednot providedvalidationnot providednot providednot providednot provided

Last Updated: Apr 15, 2024