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GRCh37/hg19 14q31.3(chr14:88399622-88422569)x1

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Interpretation:
Pathogenic​

Review status:
no assertion criteria provided
Submissions:
1 (Most recent: Nov 14, 2018)
Last evaluated:
Jan 16, 2018
Accession:
VCV000688807.1
Variation ID:
688807
Description:
copy number loss
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GRCh37/hg19 14q31.3(chr14:88399622-88422569)x1

Allele ID
676399
Variant type
copy number loss
Variant length
-
Cytogenetic location
14q31.3
Genomic location
14: 88399622-88422569 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000014.8:g.(?_88399622)_(88422569_?)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 no assertion criteria provided Jan 16, 2018 RCV000849498.1
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Gene OMIM ClinGen Gene Dosage Sensitivity Curation Variation viewer Related variants
HI score Help TS score Help Within gene All
GALC - - GRCh38
GRCh37
699 720

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Pathogenic
(Jan 16, 2018)
no assertion criteria provided
Method: clinical testing
not provided
Allele origin: unknown
Lineagen, Inc
Accession: SCV000991640.1
Submitted: (Nov 14, 2018)
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 Dec 25, 2020