NM_000094.4(COL7A1):c.84A>G AND Recessive dystrophic epidermolysis bullosa

Clinical significance:Pathogenic (Last evaluated: Nov 27, 2017)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000721910.1

Allele description [Variation Report for NM_000094.4(COL7A1):c.84A>G]

NM_000094.4(COL7A1):c.84A>G

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_000094.4(COL7A1):c.84A>G
HGVS:
  • NC_000003.12:g.48595076T>C
  • NG_007065.1:g.5177A>G
  • NM_000094.3:c.84A>G
  • NM_000094.4:c.84A>GMANE SELECT
  • NP_000085.1:p.Arg28=
  • LRG_286t1:c.84A>G
  • LRG_286:g.5177A>G
  • LRG_286p1:p.Arg28=
  • NC_000003.11:g.48632509T>C
  • p.Val29Glyfs*43
Links:
dbSNP: rs1559444716
NCBI 1000 Genomes Browser:
rs1559444716
Molecular consequence:
  • NM_000094.3:c.84A>G - synonymous variant - [Sequence Ontology: SO:0001819]
Functional consequence:
effect on RNA splicing [Variation Ontology: 0362]
Observations:
4

Condition(s)

Name:
Recessive dystrophic epidermolysis bullosa (RDEB)
Synonyms:
EPIDERMOLYSIS BULLOSA DYSTROPHICA, AUTOSOMAL RECESSIVE; DYSTROPHIC EPIDERMOLYSIS BULLOSA, AUTOSOMAL RECESSIVE; EPIDERMOLYSIS BULLOSA DYSTROPHICA, HALLOPEAU-SIEMENS TYPE; See all synonyms [MedGen]
Identifiers:
MONDO: MONDO:0009179; MedGen: C0079474; Orphanet: 79408; Orphanet: 79409; OMIM: 226600

Recent activity

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

See more...

Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000746230Biomedical Innovation Departament, CIEMATcriteria provided, single submitter
Pathogenic
(Nov 27, 2017)
inheritedclinical testing

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedinheritedyes44not providednot providednot providedclinical testing

Details of each submission

From Biomedical Innovation Departament, CIEMAT, SCV000746230.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided4not providednot providedclinical testingnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1inheritedyesnot providednot providednot provided4not provided4not provided

Last Updated: Oct 7, 2021

Support Center