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NM_000094.3(COL7A1):c.4119+1G>T

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Interpretation:
Pathogenic​

Review status:
no assertion criteria provided
Submissions:
1 (Most recent: Dec 30, 2010)
Last evaluated:
Sep 1, 1998
Accession:
VCV000017435.1
Variation ID:
17435
Description:
single nucleotide variant
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NM_000094.3(COL7A1):c.4119+1G>T

Allele ID
32474
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
3p21.31
Genomic location
3: 48584484 (GRCh38) GRCh38 UCSC
3: 48621917 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
LRG_286t1:c.4119+1G>T
NC_000003.11:g.48621917C>A
NC_000003.12:g.48584484C>A
... more HGVS
Protein change
-
Other names
IVS35DS, G-T, +1
Canonical SPDI
NC_000003.12:48584483:C:A
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
-
Links
OMIM: 120120.0013
dbSNP: rs1575467199
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 Sep 1, 1998 RCV000018983.28
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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
(Sep 01, 1998)
no assertion criteria provided
Method: literature only
EPIDERMOLYSIS BULLOSA DYSTROPHICA, AUTOSOMAL RECESSIVE
Allele origin: germline
OMIM
Accession: SCV000039270.2
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
Novel COL7A1 mutations in dystrophic forms of epidermolysis bullosa. Kon A The Journal of investigative dermatology 1998 PMID: 9740253

Text-mined citations for rs1575467199...

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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