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NM_000094.3(COL7A1):c.3861del (p.Pro1289fs)

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Interpretation:
Pathogenic​

Review status:
no assertion criteria provided
Submissions:
1 (Most recent: Dec 30, 2010)
Last evaluated:
May 1, 1994
Accession:
VCV000017426.1
Variation ID:
17426
Description:
1bp deletion
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NM_000094.3(COL7A1):c.3861del (p.Pro1289fs)

Allele ID
32465
Variant type
Deletion
Variant length
1 bp
Cytogenetic location
3p21.31
Genomic location
3: 48585590 (GRCh38) GRCh38 UCSC
3: 48623023 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000003.11:g.48623026del
NC_000003.12:g.48585593del
NG_007065.1:g.14663del
... more HGVS
Protein change
P1289fs
Other names
-
Canonical SPDI
NC_000003.12:48585589:CCCC:CCC
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
-
Links
OMIM: 120120.0004
dbSNP: rs1575470363
VarSome
Comment on variant
ClinGen staff contributed the HGVS expression for this variant.
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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 May 1, 1994 RCV000018972.28
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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
(May 01, 1994)
no assertion criteria provided
Method: literature only
EPIDERMOLYSIS BULLOSA DYSTROPHICA, AUTOSOMAL RECESSIVE
Allele origin: germline
OMIM
Accession: SCV000039259.2
Submitted: (Dec 30, 2010)
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
Premature termination codons in the type VII collagen gene (COL7A1) underlie severe, mutilating recessive dystrophic epidermolysis bullosa. Christiano AM Genomics 1994 PMID: 8088783

Text-mined citations for rs1575470363...

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These citations are identified by LitVar using the rs number, so they may include citations for more than one variant at this location. Please review the LitVar results carefully for your variant of interest.

Record last updated Oct 08, 2021