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NM_001365.4(DLG4):c.20-1G>C

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Interpretation:
association​

Review status:
no assertion criteria provided
Submissions:
1 (Most recent: Nov 16, 2020)
Accession:
VCV000996649.1
Variation ID:
996649
Description:
single nucleotide variant
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NM_001365.4(DLG4):c.20-1G>C

Allele ID
984425
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
17p13.1
Genomic location
17: 7218640 (GRCh38) GRCh38 UCSC
17: 7121959 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000017.10:g.7121959C>G
NC_000017.11:g.7218640C>G
NG_007975.1:g.3807C>G
... more HGVS
Protein change
-
Other names
-
Canonical SPDI
NC_000017.11:7218639:C:G
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 - RCV001291270.1
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Gene OMIM ClinGen Gene Dosage Sensitivity Curation Variation viewer Related variants
HI score Help TS score Help Within gene All
ACADVL - - GRCh38
GRCh37
891 973
DLG4 - - GRCh38
GRCh37
41 114

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: inherited
University of Washington Center for Mendelian Genomics, University of Washington
Accession: SCV001479696.1
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