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NM_014718.4(CLSTN3):c.599T>C (p.Ile200Thr)

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Interpretation:
association​

Review status:
no assertion criteria provided
Submissions:
1 (Most recent: Nov 16, 2020)
Accession:
VCV000996628.1
Variation ID:
996628
Description:
single nucleotide variant
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NM_014718.4(CLSTN3):c.599T>C (p.Ile200Thr)

Allele ID
984386
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
12p13.31
Genomic location
12: 7135810 (GRCh38) GRCh38 UCSC
12: 7288406 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000012.11:g.7288406T>C
NC_000012.12:g.7135810T>C
NM_014718.4:c.599T>C MANE Select NP_055533.2:p.Ile200Thr missense
Protein change
I200T
Other names
-
Canonical SPDI
NC_000012.12:7135809:T:C
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 - RCV001291196.1
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Gene OMIM ClinGen Gene Dosage Sensitivity Curation Variation viewer Related variants
HI score Help TS score Help Within gene All
CLSTN3 - - GRCh38
GRCh38
GRCh37
1 50

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: SCV001479619.1
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