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NM_000094.3(COL7A1):c.8393T>A (p.Met2798Lys)

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Interpretation:
Pathogenic​

Review status:
no assertion criteria provided
Submissions:
1 (Most recent: Dec 30, 2010)
Last evaluated:
May 1, 1993
Accession:
VCV000017423.1
Variation ID:
17423
Description:
single nucleotide variant
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NM_000094.3(COL7A1):c.8393T>A (p.Met2798Lys)

Allele ID
32462
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
3p21.31
Genomic location
3: 48566281 (GRCh38) GRCh38 UCSC
3: 48603714 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
Q02388:p.Met2798Lys
LRG_286t1:c.8393T>A LRG_286p1:p.Met2798Lys
LRG_286:g.33972T>A
... more HGVS
Protein change
M2798K
Other names
-
Canonical SPDI
NC_000003.12:48566280:A:T
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
Trans-Omics for Precision Medicine (TOPMed) 0.00001
Links
dbSNP: rs121912828
ClinGen: CA257933
UniProtKB: Q02388#VAR_001837
OMIM: 120120.0001
VarSome
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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, 1993 RCV000018969.27
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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, 1993)
no assertion criteria provided
Method: literature only
EPIDERMOLYSIS BULLOSA DYSTROPHICA, AUTOSOMAL RECESSIVE
Allele origin: germline
OMIM
Accession: SCV000039256.1
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
A missense mutation in type VII collagen in two affected siblings with recessive dystrophic epidermolysis bullosa. Christiano AM Nature genetics 1993 PMID: 8513326

Text-mined citations for rs121912828...

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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