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NC_000022.10:g.29758984_29815476del

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Interpretation:
Pathogenic​

Review status:
no assertion criteria provided
Submissions:
1 (Most recent: Jan 16, 2020)
Last evaluated:
Jan 16, 2020
Accession:
VCV000805794.1
Variation ID:
805794
Description:
deletion
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NC_000022.10:g.29758984_29815476del

Allele ID
794114
Variant type
Deletion
Variant length
-
Cytogenetic location
22q12.2
Genomic location
-
HGVS
Nucleotide Protein Molecular
consequence
NC_000022.10:g.29758984_29815476del
Protein change
-
Other names
75-KB DEL, EX1-2DEL
Canonical SPDI
-
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
-
Links
OMIM: 600157.0001
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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, 2020 RCV000993589.1
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Gene OMIM ClinGen Gene Dosage Sensitivity Curation Variation viewer Related variants
HI score Help TS score Help Within gene All
AP1B1 - - GRCh38
GRCh37
33 65

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Pathogenic
(Jan 16, 2020)
no assertion criteria provided
Method: literature only
KERATITIS-ICHTHYOSIS-DEAFNESS SYNDROME, AUTOSOMAL RECESSIVE
Allele origin: germline
OMIM
Accession: SCV001146680.1
Submitted: (Jan 16, 2020)
Evidence details
Publications
PubMed (1)

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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Title Author Journal Year Link
Homozygous Loss-of-Function Mutations in AP1B1, Encoding Beta-1 Subunit of Adaptor-Related Protein Complex 1, Cause MEDNIK-like Syndrome. Alsaif HS American journal of human genetics 2019 PMID: 31630791

Record last updated Aug 20, 2020