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NM_006384.3(CIB1):c.548_549dup (p.Ala184Leufs)

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Interpretation:
risk factor​

Review status:
no assertion criteria provided
Submissions:
1 (Most recent: Jan 3, 2019)
Last evaluated:
Feb 1, 2019
Accession:
VCV000599256.1
Variation ID:
599256
Description:
2bp duplication
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NM_006384.3(CIB1):c.548_549dup (p.Ala184Leufs)

Allele ID
590477
Variant type
Duplication
Variant length
2 bp
Cytogenetic location
15q26.1
Genomic location
15: 90230939-90230940 (GRCh38) GRCh38 UCSC
15: 90774171-90774172 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000015.10:g.90230939_90230940dup
NC_000015.9:g.90774171_90774172dup
NM_006384.3:c.548_549dup NP_006375.2:p.Ala184Leufs
Protein change
-
Other names
-
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
-
Links
OMIM: 602293.0003
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Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
risk factor 1 no assertion criteria provided Feb 1, 2019 RCV000735847.2
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Gene OMIM ClinGen Gene Dosage Sensitivity Curation Variation viewer Related variants
HI score Help TS score Help Within gene All
CIB1 - - GRCh38
GRCh37
5 42

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
risk factor
(Feb 01, 2019)
no assertion criteria provided
Method: literature only
EPIDERMODYSPLASIA VERRUCIFORMIS, SUSCEPTIBILITY TO, 3
Allele origin: germline
OMIM
Accession: SCV000863998.2
Submitted: (Jan 03, 2019)
Evidence details
Publications
PubMed (2)

Citations for this variant

Title Author Journal Year Link
The human CIB1-EVER1-EVER2 complex governs keratinocyte-intrinsic immunity to β-papillomaviruses. de Jong SJ The Journal of experimental medicine 2018 PMID: 30068544
[Epidermodysplasia verruciformis. A case report including ultrastructural, virological and photobiological investigations (author's transl)]. Kienzler JL Annales de dermatologie et de venereologie 1979 PMID: 228581

Record last updated Jun 20, 2019