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GRCh37/hg19 16p13.11(chr16:14897625-16516109)x1

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Interpretation:
Pathogenic​

Review status:
no assertion criteria provided
Submissions:
1 (Most recent: Feb 28, 2017)
Accession:
VCV000396202.1
Variation ID:
396202
Description:
copy number loss
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GRCh37/hg19 16p13.11(chr16:14897625-16516109)x1

Allele ID
383095
Variant type
copy number loss
Variant length
-
Cytogenetic location
16p13.11
Genomic location
16: 14897625-16516109 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000016.9:g.(?_14897625)_(16516109_?)del
Protein change
-
Other names
-
Canonical SPDI
-
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
-
Links
dbVar: nssv13649037
dbVar: nsv2771293
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 - RCV000448849.1

Clinical features observed in individuals with this variant

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Gene OMIM ClinGen Gene Dosage Sensitivity Curation Variation viewer Related variants
HI score Help TS score Help Within gene All
MYH11 No evidence available No evidence available GRCh38
GRCh38
GRCh37
1126 2297
NTAN1 No evidence available No evidence available GRCh38
GRCh38
GRCh37
- 202
ABCC1 - - GRCh38
GRCh38
GRCh37
47 381
ABCC6 - - GRCh38
GRCh38
GRCh37
586 900
BMERB1 - - - GRCh38
GRCh38
GRCh37
- 328
CEP20 - - GRCh38
GRCh38
GRCh37
5 338
MARF1 - - GRCh38
GRCh38
GRCh37
- 327
MPV17L - - GRCh38
GRCh38
GRCh37
- 303
NDE1 - - GRCh38
GRCh38
GRCh37
125 1294
NOMO1 - - GRCh38
GRCh38
GRCh37
1 163

There are 5 more genes affected by this variant. See the full set of genes in Variation Viewer (GRCh37) and ClinGen Dosage Sensitivity Map.

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Pathogenic
(-)
no assertion criteria provided
Method: clinical testing
See cases
Allele origin: not provided
ARUP Laboratories, Cytogenetics and Genomic Microarray,ARUP Laboratories
Accession: SCV000501690.1
Submitted: (Feb 28, 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.

Record last updated Dec 25, 2020