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NM_001378969.1(KCND3):c.1169G>A (p.Ser390Asn) AND Spinocerebellar ataxia type 19/22

Germline classification:
Pathogenic (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:
RCV001849175.2

Allele description [Variation Report for NM_001378969.1(KCND3):c.1169G>A (p.Ser390Asn)]

NM_001378969.1(KCND3):c.1169G>A (p.Ser390Asn)

Gene:
KCND3:potassium voltage-gated channel subfamily D member 3 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
1p13.2
Genomic location:
Preferred name:
NM_001378969.1(KCND3):c.1169G>A (p.Ser390Asn)
HGVS:
  • NC_000001.11:g.111787044C>T
  • NG_032011.2:g.207112G>A
  • NM_001378969.1:c.1169G>AMANE SELECT
  • NM_001378970.1:c.1169G>A
  • NM_004980.5:c.1169G>A
  • NM_172198.3:c.1169G>A
  • NP_001365898.1:p.Ser390Asn
  • NP_001365899.1:p.Ser390Asn
  • NP_004971.2:p.Ser390Asn
  • NP_004971.2:p.Ser390Asn
  • NP_751948.1:p.Ser390Asn
  • LRG_445t1:c.1169G>A
  • LRG_445:g.207112G>A
  • LRG_445p1:p.Ser390Asn
  • NC_000001.10:g.112329666C>T
  • NM_004980.4:c.1169G>A
  • Q9UK17:p.Ser390Asn
Protein change:
S390N; SER390ASN
Links:
UniProtKB: Q9UK17#VAR_070791; OMIM: 605411.0004; dbSNP: rs397515478
NCBI 1000 Genomes Browser:
rs397515478
Molecular consequence:
  • NM_001378969.1:c.1169G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001378970.1:c.1169G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_004980.5:c.1169G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_172198.3:c.1169G>A - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Spinocerebellar ataxia type 19/22 (SCA19)
Synonyms:
Spinocerebellar ataxia 19; Spinocerebellar ataxia 22
Identifiers:
MONDO: MONDO:0011819; MedGen: C1846367; Orphanet: 98772; OMIM: 607346

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV001960833O&I group, Department of Genetics, University Medical Center of Groningen
no assertion criteria provided
Pathogenic
(Jul 22, 2021) 		inheritedresearch

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedinheritedyesnot providednot providednot providednot providednot providedresearch

Details of each submission

From O&I group, Department of Genetics, University Medical Center of Groningen, SCV001960833.1

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

Last Updated: Sep 16, 2024