NM_000094.3(COL7A1):c.8037C>T (p.Ile2679=) AND Dystrophic epidermolysis bullosa

Clinical significance:Uncertain significance (Last evaluated: Feb 13, 2020)

Review status:(0/4) 0 stars out of maximum of 4 stars

no assertion criteria provided

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV001275471.1

Allele description [Variation Report for NM_000094.3(COL7A1):c.8037C>T (p.Ile2679=)]

NM_000094.3(COL7A1):c.8037C>T (p.Ile2679=)

Gene:
COL7A1:collagen type VII alpha 1 chain [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
3p21.31
Genomic location:
Preferred name:
NM_000094.3(COL7A1):c.8037C>T (p.Ile2679=)
HGVS:
  • NC_000003.12:g.48567583G>A
  • NG_007065.1:g.32670C>T
  • NM_000094.3:c.8037C>T
  • NP_000085.1:p.Ile2679=
  • LRG_286t1:c.8037C>T
  • LRG_286:g.32670C>T
  • LRG_286p1:p.Ile2679=
  • NC_000003.11:g.48605016G>A
Links:
dbSNP: rs112974441
NCBI 1000 Genomes Browser:
rs112974441
Molecular consequence:
  • NM_000094.3:c.8037C>T - synonymous variant - [Sequence Ontology: SO:0001819]

Condition(s)

Name:
Dystrophic epidermolysis bullosa
Synonyms:
Epidermolysis Bullosa Dystrophica; Severe generalized recessive dystrophic epidermolysis bullosa; RDEB-sev gen; See all synonyms [MedGen]
Identifiers:
MedGen: C0079294

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV001460636Natera, Inc.no assertion criteria providedUncertain significance
(Feb 13, 2020)
germlineclinical testing

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknownnot providednot providednot providednot providednot providedclinical testing

Details of each submission

From Natera, Inc., SCV001460636.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot providednot providednot providednot providednot provided

Last Updated: May 16, 2021

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