NM_000094.4(COL7A1):c.4997G>A (p.Arg1666Gln) AND Epidermolysis bullosa dystrophica inversa, autosomal recessive

Clinical significance:Uncertain significance (Last evaluated: Oct 10, 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:
RCV001280106.1

Allele description [Variation Report for NM_000094.4(COL7A1):c.4997G>A (p.Arg1666Gln)]

NM_000094.4(COL7A1):c.4997G>A (p.Arg1666Gln)

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.4997G>A (p.Arg1666Gln)
HGVS:
  • NC_000003.12:g.48580636C>T
  • NG_007065.1:g.19617G>A
  • NM_000094.4:c.4997G>AMANE SELECT
  • NP_000085.1:p.Arg1666Gln
  • LRG_286:g.19617G>A
  • NC_000003.11:g.48618069C>T
Protein change:
R1666Q
Molecular consequence:
  • NM_000094.4:c.4997G>A - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

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

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
SCV001467259Natera, Inc.no assertion criteria providedUncertain significance
(Oct 10, 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., SCV001467259.1

#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: Jan 2, 2021

Support Center