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NM_000094.4(COL7A1):c.2142A>G (p.Gly714=)

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Interpretation:
Pathogenic​

Review status:
criteria provided, single submitter
Submissions:
1 (Most recent: Mar 10, 2021)
Last evaluated:
Apr 8, 2017
Accession:
VCV001047977.1
Variation ID:
1047977
Description:
single nucleotide variant
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NM_000094.4(COL7A1):c.2142A>G (p.Gly714=)

Allele ID
1035851
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
3p21.31
Genomic location
3: 48589627 (GRCh38) GRCh38 UCSC
3: 48627060 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000003.11:g.48627060T>C
NC_000003.12:g.48589627T>C
NM_000094.4:c.2142A>G MANE Select NP_000085.1:p.Gly714= synonymous
... more HGVS
Protein change
-
Other names
-
Canonical SPDI
NC_000003.12:48589626:T:C
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 Apr 8, 2017 RCV001352757.1
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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
(Apr 08, 2017)
criteria provided, single submitter
Method: research
Dystrophic epidermolysis bullosa
Allele origin: germline
Biomedical Innovation Departament, CIEMAT
Accession: SCV001547291.1
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
Mechanisms of natural gene therapy in dystrophic epidermolysis bullosa. Kiritsi D The Journal of investigative dermatology 2014 PMID: 24577406

Record last updated Apr 08, 2021