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NM_002252.5(KCNS3):c.601G>A (p.Ala201Thr)

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Interpretation:
association​

Review status:
no assertion criteria provided
Submissions:
1 (Most recent: Nov 16, 2020)
Accession:
VCV000996635.1
Variation ID:
996635
Description:
single nucleotide variant
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NM_002252.5(KCNS3):c.601G>A (p.Ala201Thr)

Allele ID
984293
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
2p24.2
Genomic location
2: 17931609 (GRCh38) GRCh38 UCSC
2: 18112876 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000002.11:g.18112876G>A
NC_000002.12:g.17931609G>A
NG_012873.1:g.57932G>A
... more HGVS
Protein change
A201T
Other names
-
Canonical SPDI
NC_000002.12:17931608:G:A
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
-
Links
Varsome
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Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
association 1 no assertion criteria provided - RCV001291236.1
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Gene OMIM ClinGen Gene Dosage Sensitivity Curation Variation viewer Related variants
HI score Help TS score Help Within gene All
KCNS3 - - GRCh38
GRCh37
3 27

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
association
(-)
no assertion criteria provided
Method: research
Autism spectrum disorder
Allele origin: de novo
University of Washington Center for Mendelian Genomics, University of Washington
Accession: SCV001479661.1
Submitted: (Nov 16, 2020)
Evidence details

Functional evidence

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There is no functional evidence in ClinVar for this variation. If you have generated functional data for this variation, please consider submitting that data to ClinVar.

Citations for this variant

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Title Author Journal Year Link
Genome sequencing identifies multiple deleterious variants in autism patients with more severe phenotypes. Guo H Genetics in medicine : official journal of the American College of Medical Genetics 2019 PMID: 30504930

Record last updated Oct 02, 2021