U.S. flag

An official website of the United States government

NM_000094.4(COL7A1):c.6279+4A>T AND Epidermolysis bullosa dystrophica

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Jan 24, 2020
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Somatic classification
of clinical impact:
None
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Somatic classification
of oncogenicity:
None
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Record status:
current
Accession:
RCV001275986.1

Allele description [Variation Report for NM_000094.4(COL7A1):c.6279+4A>T]

NM_000094.4(COL7A1):c.6279+4A>T

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.6279+4A>T
HGVS:
  • NC_000003.12:g.48575060T>A
  • NG_007065.1:g.25193A>T
  • NM_000094.4:c.6279+4A>TMANE SELECT
  • LRG_286t1:c.6279+4A>T
  • LRG_286:g.25193A>T
  • NC_000003.11:g.48612493T>A
  • NM_000094.3:c.6279+4A>T
Links:
dbSNP: rs370622769
NCBI 1000 Genomes Browser:
rs370622769
Molecular consequence:
  • NM_000094.4:c.6279+4A>T - intron variant - [Sequence Ontology: SO:0001627]

Condition(s)

Name:
Epidermolysis bullosa dystrophica
Synonyms:
Dystrophic epidermolysis bullosa, Hallopeau-Siemens type (formerly); Dystrophic epidermolysis bullosa
Identifiers:
MONDO: MONDO:0006543; MedGen: C0079294

Recent activity

Clear Turn Off Turn On

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

See more...

Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV001461687Natera, Inc.
no assertion criteria provided
Uncertain significance
(Jan 24, 2020) 		germlineclinical testing

Help

Summary from all submissions

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

Details of each submission

From Natera, Inc., SCV001461687.1

#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: Sep 29, 2024