NM_001367624.1(ZNF469):c.1827G>A (p.Ser609=) AND Corneal fragility keratoglobus, blue sclerae AND joint hypermobility

Clinical significance:Uncertain significance (Last evaluated: Jun 14, 2016)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000389080.1

Allele description [Variation Report for NM_001367624.1(ZNF469):c.1827G>A (p.Ser609=)]

NM_001367624.1(ZNF469):c.1827G>A (p.Ser609=)

Gene:
ZNF469:zinc finger protein 469 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
16q24.2
Genomic location:
Preferred name:
NM_001367624.1(ZNF469):c.1827G>A (p.Ser609=)
HGVS:
  • NC_000016.10:g.88429297G>A
  • NG_012236.2:g.6827G>A
  • NM_001367624.1:c.1827G>A
  • NP_001354553.1:p.Ser609=
  • NC_000016.9:g.88495705G>A
Links:
dbSNP: rs148616993
NCBI 1000 Genomes Browser:
rs148616993
Molecular consequence:
  • NM_001367624.1:c.1827G>A - synonymous variant - [Sequence Ontology: SO:0001819]

Condition(s)

Name:
Corneal fragility keratoglobus, blue sclerae AND joint hypermobility (BCS1)
Synonyms:
EDS6B; EHLERS-DANLOS SYNDROME, TYPE VIB; DYSGENESIS MESODERMALIS CORNEAE ET SCLERAE; See all synonyms [MedGen]
Identifiers:
MedGen: C0268344; Orphanet: 90354; OMIM: 229200

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000399281Illumina Clinical Services Laboratory,Illuminacriteria provided, single submitter
Uncertain significance
(Jun 14, 2016)
germlineclinical testing

ICSL_Variant_Classification_20161018.pdf

Citation Link

Summary from all submissions

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

Details of each submission

From Illumina Clinical Services Laboratory,Illumina, SCV000399281.2

#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 10, 2019

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