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NM_022048.5(CSNK1G1):c.368C>G (p.Pro123Arg) AND See cases

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Feb 5, 2021
Review status:
1 star out of maximum of 4 stars
criteria provided, single submitter
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:
RCV001837243.1

Allele description [Variation Report for NM_022048.5(CSNK1G1):c.368C>G (p.Pro123Arg)]

NM_022048.5(CSNK1G1):c.368C>G (p.Pro123Arg)

Gene:
CSNK1G1:casein kinase 1 gamma 1 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
15q22.31
Genomic location:
Preferred name:
NM_022048.5(CSNK1G1):c.368C>G (p.Pro123Arg)
HGVS:
  • NC_000015.10:g.64216638G>C
  • NG_051236.1:g.144622C>G
  • NM_001329605.2:c.368C>G
  • NM_001329606.2:c.368C>G
  • NM_001329607.2:c.368C>G
  • NM_022048.5:c.368C>GMANE SELECT
  • NP_001316534.1:p.Pro123Arg
  • NP_001316535.1:p.Pro123Arg
  • NP_001316536.1:p.Pro123Arg
  • NP_071331.2:p.Pro123Arg
  • NC_000015.9:g.64508837G>C
Protein change:
P123R
Links:
dbSNP: rs2140268788
NCBI 1000 Genomes Browser:
rs2140268788
Molecular consequence:
  • NM_001329605.2:c.368C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001329606.2:c.368C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001329607.2:c.368C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_022048.5:c.368C>G - missense variant - [Sequence Ontology: SO:0001583]
Observations:
1

Condition(s)

Name:
See cases [See the Variation display for details]
Identifiers:

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV002097753New York Genome Center - CSER-NYCKidSeq
criteria provided, single submitter

(NYGC Assertion Criteria 2020)
Uncertain significance
(Feb 5, 2021)
germlineclinical testing

Citation Link

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknown1not providednot provided1not providedclinical testing

Details of each submission

From New York Genome Center - CSER-NYCKidSeq, SCV002097753.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided1not providednot providedclinical testingnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknown1not providednot provided1not providednot providednot provided

Last Updated: Dec 24, 2023