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GRCh37/hg19 1q21.2(chr1:147245049-147246661)

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Interpretation:
Pathogenic​

Review status:
criteria provided, single submitter
Submissions:
1 (Most recent: Apr 1, 2019)
Last evaluated:
Nov 1, 2018
Accession:
VCV000625769.1
Variation ID:
625769
Description:
copy number loss
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GRCh37/hg19 1q21.2(chr1:147245049-147246661)

Allele ID
614073
Variant type
copy number loss
Variant length
-
Cytogenetic location
1q21.2
Genomic location
1: 147245049-147246661 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000001.10:g.(?_147245049)_(147246661_?)del
Protein change
-
Other names
-
Canonical SPDI
-
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
Pathogenic 1 criteria provided, single submitter Nov 1, 2018 RCV000767777.1
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Gene OMIM ClinGen Gene Dosage Sensitivity Curation Variation viewer Related variants
HI score Help TS score Help Within gene All
GJA5 Little evidence for dosage pathogenicity No evidence available GRCh38
GRCh37
104 376

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Pathogenic
(Nov 01, 2018)
criteria provided, single submitter
Method: clinical testing
Atrial fibrillation, familial, 11
Allele origin: germline
Baylor Genetics
Accession: SCV000898399.1
Submitted: (Apr 01, 2019)
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.

Record last updated Oct 08, 2021