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GRCh37/hg19 17q21.31(chr17:44213187-44292319)x1

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Interpretation:
Benign​

Review status:
no assertion criteria provided
Submissions:
1
First in ClinVar:
Jan 22, 2019
Most recent Submission:
Jan 22, 2019
Last evaluated:
Jun 25, 2014
Accession:
VCV000602953.2
Variation ID:
602953
Description:
79.1kb copy number loss
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GRCh37/hg19 17q21.31(chr17:44213187-44292319)x1

Allele ID
594289
Variant type
copy number loss
Variant length
79,133 bp
Cytogenetic location
17q21.31
Genomic location
17: 44213187-44292319 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000017.10:g.(?_44213187)_(44292319_?)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
Benign 1 no assertion criteria provided Jun 25, 2014 RCV000739589.2
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Gene OMIM ClinGen Gene Dosage Sensitivity Curation Variation viewer Related variants
HI score Help TS score Help Within gene All
KANSL1 Sufficient evidence for dosage pathogenicity No evidence available GRCh38
GRCh38
GRCh38
GRCh37 		1185 1332

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
 Review status
(Assertion criteria)
 Condition
(Inheritance)
 Submitter More information
Benign
(Jun 25, 2014)
 no assertion criteria provided
Method: clinical testing
 not provided
Affected status: unknown
Allele origin: unknown
Cincinnati Children's Hospital Medical Center Genetics and Genomics Diagnostic Laboratory, Cincinnati Children's Hospital Medical Center
Accession: SCV000867925.1
First in ClinVar: Jan 22, 2019
Last updated: Jan 22, 2019
Clinical Features:
Hypoparathyroidism (present) , nephrocalcinosis (present) , hypocalcemia (present) , hyperphosphatemia (present) , kidney stones (present) , SCID (present)
Sex: male
Tissue: buccal swab

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 Mar 05, 2023 

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