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NM_000094.4(COL7A1):c.6178_6179del (p.Arg2060fs)

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Interpretation:
Pathogenic​

Review status:
criteria provided, single submitter
Submissions:
1 (Most recent: Mar 10, 2021)
Last evaluated:
Nov 26, 2018
Accession:
VCV001047982.1
Variation ID:
1047982
Description:
2bp microsatellite
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NM_000094.4(COL7A1):c.6178_6179del (p.Arg2060fs)

Allele ID
1035810
Variant type
Microsatellite
Variant length
2 bp
Cytogenetic location
3p21.31
Genomic location
3: 48575340-48575341 (GRCh38) GRCh38 UCSC
3: 48612773-48612774 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000003.11:g.48612774TC[2]
NC_000003.12:g.48575341TC[2]
NM_000094.4:c.6178_6179del MANE Select NP_000085.1:p.Arg2060fs frameshift
... more HGVS
Protein change
R2060fs
Other names
-
Canonical SPDI
NC_000003.12:48575339:CTCTCTC:CTCTC
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 Nov 26, 2018 RCV001352766.1
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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
1620 1641

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Pathogenic
(Nov 26, 2018)
criteria provided, single submitter
Method: research
Dystrophic epidermolysis bullosa
Allele origin: germline
Biomedical Innovation Departament, CIEMAT
Accession: SCV001547348.1
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