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NM_001384609.1(SLITRK5):c.976C>T (p.Pro326Ser)

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Interpretation:
association​

Review status:
no assertion criteria provided
Submissions:
1 (Most recent: Nov 16, 2020)
Accession:
VCV000996627.1
Variation ID:
996627
Description:
single nucleotide variant
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NM_001384609.1(SLITRK5):c.976C>T (p.Pro326Ser)

Allele ID
984390
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
13q31.2
Genomic location
13: 87676364 (GRCh38) GRCh38 UCSC
13: 88328619 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000013.10:g.88328619C>T
NC_000013.11:g.87676364C>T
NM_001384609.1:c.976C>T MANE Select NP_001371538.1:p.Pro326Ser missense
... more HGVS
Protein change
P326S
Other names
-
Canonical SPDI
NC_000013.11:87676363:C:T
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 - RCV001291195.1
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Gene OMIM ClinGen Gene Dosage Sensitivity Curation Variation viewer Related variants
HI score Help TS score Help Within gene All
SLITRK5 - - GRCh38
GRCh37
5 73

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: SCV001479618.1
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