NM_000094.4(COL7A1):c.6654C>G (p.Gly2218=) AND not specified

Clinical significance:Benign

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:
RCV001529144.2

Allele description [Variation Report for NM_000094.4(COL7A1):c.6654C>G (p.Gly2218=)]

NM_000094.4(COL7A1):c.6654C>G (p.Gly2218=)

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.6654C>G (p.Gly2218=)
HGVS:
  • NC_000003.12:g.48573234G>C
  • NG_007065.1:g.27019C>G
  • NM_000094.3:c.6654C>G
  • NM_000094.4:c.6654C>GMANE SELECT
  • NP_000085.1:p.Gly2218=
  • NP_000085.1:p.Gly2218=
  • LRG_286t1:c.6654C>G
  • LRG_286:g.27019C>G
  • LRG_286p1:p.Gly2218=
  • NC_000003.11:g.48610667G>C
  • NC_000003.11:g.48610667G>C
Links:
dbSNP: rs151111203
NCBI 1000 Genomes Browser:
rs151111203
Molecular consequence:
  • NM_000094.3:c.6654C>G - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_000094.4:c.6654C>G - synonymous variant - [Sequence Ontology: SO:0001819]

Condition(s)

Synonyms:
AllHighlyPenetrant
Identifiers:
MedGen: CN169374

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV001742125Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen - VKGL Data-share Consensusno assertion criteria providedBenigngermlineclinical 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, SCV001742125.3

#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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