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NM_001193466.2(KANSL1):c.878del (p.Asp293fs)

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Interpretation:
Pathogenic​

Review status:
criteria provided, single submitter
Submissions:
1 (Most recent: Jul 3, 2017)
Last evaluated:
Dec 8, 2016
Accession:
VCV000545439.1
Variation ID:
545439
Description:
1bp deletion
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NM_001193466.2(KANSL1):c.878del (p.Asp293fs)

Allele ID
535708
Variant type
Deletion
Variant length
1 bp
Cytogenetic location
17q21.31
Genomic location
17: 46171266 (GRCh38) GRCh38 UCSC
17: 44248632 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000017.10:g.44248632del
NC_000017.11:g.46171266del
NM_001193465.1:c.878del NP_001180394.1:p.Asp293fs frameshift
... more HGVS
Protein change
D293fs
Other names
-
Canonical SPDI
NC_000017.11:46171265:T:
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
-
Links
dbSNP: rs1555575405
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 Dec 8, 2016 RCV000656400.1
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Gene OMIM ClinGen Gene Dosage Sensitivity Curation Variation viewer Related variants
HI score Help TS score Help Within gene All
KANSL1 Sufficient evidence for dosage pathogenicity No evidence available GRCh38
GRCh38
GRCh38
GRCh37
878 1037

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Pathogenic
(Dec 08, 2016)
criteria provided, single submitter
Method: clinical testing
Koolen-de Vries syndrome
Allele origin: de novo
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne
Accession: SCV000778407.1
Submitted: (Jul 03, 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.

Text-mined citations for rs1555575405...

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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 Apr 06, 2021