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NM_000094.4(COL7A1):c.6026G>A (p.Gly2009Glu) AND COL7A1-related disorder

Germline classification:
Likely pathogenic (1 submission)
Last evaluated:
Jan 29, 2019
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:
RCV004545808.1

Allele description [Variation Report for NM_000094.4(COL7A1):c.6026G>A (p.Gly2009Glu)]

NM_000094.4(COL7A1):c.6026G>A (p.Gly2009Glu)

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.6026G>A (p.Gly2009Glu)
HGVS:
  • NC_000003.12:g.48575493C>T
  • NG_007065.1:g.24760G>A
  • NM_000094.4:c.6026G>AMANE SELECT
  • NP_000085.1:p.Gly2009Glu
  • NP_000085.1:p.Gly2009Glu
  • LRG_286t1:c.6026G>A
  • LRG_286:g.24760G>A
  • LRG_286p1:p.Gly2009Glu
  • NC_000003.11:g.48612926C>T
  • NM_000094.3:c.6026G>A
Protein change:
G2009E
Links:
dbSNP: rs1342925232
NCBI 1000 Genomes Browser:
rs1342925232
Molecular consequence:
  • NM_000094.4:c.6026G>A - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
COL7A1-related disorder
Synonyms:
COL7A1-related condition; COL7A1- related disorders
Identifiers:

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV001132840Biochemical Molecular Genetic Laboratory, King Abdulaziz Medical City
no assertion criteria provided
Likely pathogenic
(Jan 29, 2019) 		germlineclinical testing

Help

Summary from all submissions

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

Details of each submission

From Biochemical Molecular Genetic Laboratory, King Abdulaziz Medical City, SCV001132840.1

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

Last Updated: Sep 1, 2024