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NM_001127644.2(GABRA1):c.268G>C (p.Asp90His)

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Interpretation:
Pathogenic​

Review status:
criteria provided, single submitter
Submissions:
1 (Most recent: Jan 29, 2019)
Last evaluated:
Jun 13, 2013
Accession:
VCV000205517.2
Variation ID:
205517
Description:
single nucleotide variant
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NM_001127644.2(GABRA1):c.268G>C (p.Asp90His)

Allele ID
201855
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
5q34
Genomic location
5: 161873129 (GRCh38) GRCh38 UCSC
5: 161300135 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000005.10:g.161873129G>C
NC_000005.9:g.161300135G>C
NM_001127644.2:c.268G>C MANE Select NP_001121116.1:p.Asp90His missense
... more HGVS
Protein change
D90H
Other names
p.D90H:GAT>CAT
Canonical SPDI
NC_000005.10:161873128:G:C
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
-
Links
dbSNP: rs796052488
ClinGen: CA314664
VarSome
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Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Pathogenic 1 criteria provided, single submitter Jun 13, 2013 RCV000187494.2
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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
Pathogenic
(Jun 13, 2013)
criteria provided, single submitter
Method: clinical testing
Not Provided
Allele origin: germline
GeneDx
Accession: SCV000241088.11
Submitted: (Jan 29, 2019)
Evidence details
Comment:
p.Asp90His (GAT>CAT): c.268 G>C in exon 6 of the GABRA1 gene (NM_000806.5). The Asp90His missense change has not been published as a mutation, nor has … (more)

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 rs796052488...

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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 Mar 07, 2021