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NM_000094.4(COL7A1):c.4012G>A (p.Gly1338Arg)

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Interpretation:
Pathogenic​

Review status:
criteria provided, single submitter
Submissions:
1 (Most recent: Mar 10, 2021)
Last evaluated:
Dec 15, 2019
Accession:
VCV001048010.1
Variation ID:
1048010
Description:
single nucleotide variant
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NM_000094.4(COL7A1):c.4012G>A (p.Gly1338Arg)

Allele ID
1035839
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
3p21.31
Genomic location
3: 48584769 (GRCh38) GRCh38 UCSC
3: 48622202 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000003.11:g.48622202C>T
NC_000003.12:g.48584769C>T
NM_000094.4:c.4012G>A MANE Select NP_000085.1:p.Gly1338Arg missense
... more HGVS
Protein change
G1338R
Other names
-
Canonical SPDI
NC_000003.12:48584768:C:T
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 Dec 15, 2019 RCV001352811.1
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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
(Dec 15, 2019)
criteria provided, single submitter
Method: research
Dystrophic epidermolysis bullosa
Allele origin: germline
Biomedical Innovation Departament, CIEMAT
Accession: SCV001547306.1
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
Long-term follow-up of patients with recessive dystrophic epidermolysis bullosa in the Netherlands: expansion of the mutation database and unusual phenotype-genotype correlations. van den Akker PC Journal of dermatological science 2009 PMID: 19665875

Record last updated Apr 08, 2021