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NM_000094.4(COL7A1):c.58_70del (p.Arg20fs)

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Interpretation:
Pathogenic​

Review status:
criteria provided, single submitter
Submissions:
1 (Most recent: Mar 10, 2021)
Last evaluated:
Nov 4, 2008
Accession:
VCV001047934.1
Variation ID:
1047934
Description:
13bp deletion
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NM_000094.4(COL7A1):c.58_70del (p.Arg20fs)

Allele ID
1035861
Variant type
Deletion
Variant length
13 bp
Cytogenetic location
3p21.31
Genomic location
3: 48595090-48595102 (GRCh38) GRCh38 UCSC
3: 48632523-48632535 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000003.11:g.48632527_48632539del
NC_000003.12:g.48595094_48595106del
NM_000094.4:c.58_70del MANE Select NP_000085.1:p.Arg20fs frameshift
... more HGVS
Protein change
R20fs
Other names
-
Canonical SPDI
NC_000003.12:48595089:GGGCTCGCACTCGGGGC:GGGC
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 4, 2008 RCV001352697.1
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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
(Nov 04, 2008)
criteria provided, single submitter
Method: research
Dystrophic epidermolysis bullosa
Allele origin: germline
Biomedical Innovation Departament, CIEMAT
Accession: SCV001547275.1
Submitted: (Mar 10, 2021)
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
Novel human pathological mutations. Gene symbol: COL7A1. Disease: Epidermolysis bullosa dystrophica. Cuadrado-Corrales N Human genetics 2009 PMID: 19694005

Record last updated Apr 08, 2021