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NM_000094.4(COL7A1):c.4434dup (p.Lys1479fs)

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Interpretation:
Pathogenic​

Review status:
criteria provided, single submitter
Submissions:
1 (Most recent: Mar 10, 2021)
Last evaluated:
Sep 14, 2009
Accession:
VCV001048037.1
Variation ID:
1048037
Description:
1bp duplication
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NM_000094.4(COL7A1):c.4434dup (p.Lys1479fs)

Allele ID
1035834
Variant type
Duplication
Variant length
1 bp
Cytogenetic location
3p21.31
Genomic location
3: 48583395-48583396 (GRCh38) GRCh38 UCSC
3: 48620828-48620829 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000003.11:g.48620832dup
NC_000003.12:g.48583399dup
NM_000094.4:c.4434dup MANE Select NP_000085.1:p.Lys1479fs frameshift
... more HGVS
Protein change
K1479fs
Other names
-
Canonical SPDI
NC_000003.12:48583395:GGGG:GGGGG
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
Pathogenic 1 criteria provided, single submitter Sep 14, 2009 RCV001352846.1
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Gene OMIM ClinGen Gene Dosage Sensitivity Curation Variation viewer Related variants
HI score Help TS score Help Within gene All
COL7A1 - - GRCh38
GRCh37
1621 1642

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Pathogenic
(Sep 14, 2009)
criteria provided, single submitter
Method: research
Dystrophic epidermolysis bullosa
Allele origin: germline
Biomedical Innovation Departament, CIEMAT
Accession: SCV001547312.1
Submitted: (Mar 10, 2021)
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 Apr 08, 2021