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NM_001127644.2(GABRA1):c.560-20T>C

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Interpretation:
Uncertain significance​

Review status:
criteria provided, single submitter
Submissions:
1 (Most recent: Oct 5, 2017)
Last evaluated:
Mar 20, 2017
Accession:
VCV000445414.2
Variation ID:
445414
Description:
single nucleotide variant
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NM_001127644.2(GABRA1):c.560-20T>C

Allele ID
438686
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
5q34
Genomic location
5: 161882538 (GRCh38) GRCh38 UCSC
5: 161309544 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000005.10:g.161882538T>C
NC_000005.9:g.161309544T>C
NG_011548.1:g.40348T>C
... more HGVS
Protein change
-
Other names
-
Canonical SPDI
NC_000005.10:161882537:T:C
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
-
Links
ClinGen: CA131086092
dbSNP: rs202046572
Varsome
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Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Uncertain significance 1 criteria provided, single submitter Mar 20, 2017 RCV000514903.2
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Gene OMIM ClinGen Gene Dosage Sensitivity Curation Variation viewer Related variants
HI score Help TS score Help Within gene All
GABRA1 Some evidence for dosage pathogenicity No evidence available GRCh38
GRCh37
383 409

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Uncertain significance
(Mar 20, 2017)
criteria provided, single submitter
Method: clinical testing
not provided
Allele origin: germline
Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics
Accession: SCV000609759.1
Submitted: (Oct 05, 2017)
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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There are no citations in ClinVar for this variation. If you know of citations for this variation, please consider submitting that information to ClinVar.

Text-mined citations for rs202046572...

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These citations are identified by LitVar using the rs number, so they may include citations for more than one variant at this location. Please review the LitVar results carefully for your variant of interest.

Record last updated Sep 29, 2021