NM_001127464.2(ZNF469):c.9835A>G (p.Thr3279Ala) AND Keratoconus 1

Clinical significance:Likely pathogenic

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:
RCV000114791.1

Allele description

NM_001127464.2(ZNF469):c.9835A>G (p.Thr3279Ala)

Gene:
ZNF469:zinc finger protein 469 [Gene - OMIM]
Variant type:
single nucleotide variant
Cytogenetic location:
16q24.2
Genomic location:
Preferred name:
NM_001127464.2(ZNF469):c.9835A>G (p.Thr3279Ala)
HGVS:
  • NC_000016.10:g.88437389A>G
  • NG_012236.2:g.14919A>G
  • NM_001127464.2:c.9835A>G
  • NP_001120936.2:p.Thr3279Ala
  • NC_000016.9:g.88503797A>G
  • NG_012236.1:g.14919A>G
  • NM_001127464.1:c.9835A>G
  • NP_001120936.1:p.Thr3279Ala
Protein change:
T3279A
Molecular consequence:
  • NM_001127464.1:c.9835A>G - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Keratoconus 1 (KTCN1)
Identifiers:
MedGen: C1835677; OMIM: 148300

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000148686Willoughby Group, Queen's University Belfastno assertion criteria providedprobable-pathogenicgermlinenot provided

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlinenot providednot providednot providednot provided1not providedliterature only

Details of each submission

From Willoughby Group, Queen's University Belfast, SCV000148686.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providednot providednot provided

Description

Converted during submission to Likely pathogenic.

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlinenot provided1not providednot providednot providednot providednot providednot provided

Last Updated: Oct 19, 2015