NM_000094.4(COL7A1):c.1348C>T (p.Arg450Cys) AND not provided

Clinical significance:Uncertain significance

Review status:(0/4) 0 stars out of maximum of 4 stars

no assertion criteria provided

Based on:
2 submissions [Details]
Record status:
current
Accession:
RCV001529118.3

Allele description [Variation Report for NM_000094.4(COL7A1):c.1348C>T (p.Arg450Cys)]

NM_000094.4(COL7A1):c.1348C>T (p.Arg450Cys)

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.1348C>T (p.Arg450Cys)
HGVS:
  • NC_000003.12:g.48591907G>A
  • NG_007065.1:g.8346C>T
  • NM_000094.3:c.1348C>T
  • NM_000094.4:c.1348C>TMANE SELECT
  • NP_000085.1:p.Arg450Cys
  • NP_000085.1:p.Arg450Cys
  • LRG_286t1:c.1348C>T
  • LRG_286:g.8346C>T
  • LRG_286p1:p.Arg450Cys
  • NC_000003.11:g.48629340G>A
Protein change:
R450C
Links:
dbSNP: rs139434755
NCBI 1000 Genomes Browser:
rs139434755
Molecular consequence:
  • NM_000094.3:c.1348C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_000094.4:c.1348C>T - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Identifiers:
MedGen: CN517202

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV001742035Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen - VKGL Data-share Consensusno assertion criteria providedUncertain significancegermlineclinical testing

SCV001808460Genome Diagnostics Laboratory, Amsterdam University Medical Center - VKGL Data-share Consensusno assertion criteria providedUncertain significancegermlineclinical testing

Summary from all submissions

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

Details of each submission

From Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen - VKGL Data-share Consensus, SCV001742035.3

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

From Genome Diagnostics Laboratory, Amsterdam University Medical Center - VKGL Data-share Consensus, SCV001808460.1

#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: Oct 25, 2021

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