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NM_000094.4(COL7A1):c.5441G>A (p.Arg1814His) AND Epidermolysis bullosa dystrophica inversa, autosomal recessive

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Aug 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:
RCV001280100.1

Allele description [Variation Report for NM_000094.4(COL7A1):c.5441G>A (p.Arg1814His)]

NM_000094.4(COL7A1):c.5441G>A (p.Arg1814His)

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.5441G>A (p.Arg1814His)
HGVS:
  • NC_000003.12:g.48578499C>T
  • NG_007065.1:g.21754G>A
  • NM_000094.4:c.5441G>AMANE SELECT
  • NP_000085.1:p.Arg1814His
  • LRG_286:g.21754G>A
  • NC_000003.11:g.48615932C>T
  • NM_000094.3:c.5441G>A
Protein change:
R1814H
Links:
dbSNP: rs756258247
NCBI 1000 Genomes Browser:
rs756258247
Molecular consequence:
  • NM_000094.4:c.5441G>A - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Epidermolysis bullosa dystrophica inversa, autosomal recessive
Identifiers:
MedGen: C2673612

Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV001467253Natera, Inc.
no assertion criteria provided
Uncertain significance
(Aug 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., SCV001467253.1

#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