NM_001367624.1(ZNF469):c.290C>T (p.Pro97Leu) AND Keratoconus 1

Clinical significance: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:
RCV000114779.1

Allele description [Variation Report for NM_001367624.1(ZNF469):c.290C>T (p.Pro97Leu)]

NM_001367624.1(ZNF469):c.290C>T (p.Pro97Leu)

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.290C>T (p.Pro97Leu)
HGVS:
  • NC_000016.10:g.88427760C>T
  • NG_012236.2:g.5290C>T
  • NM_001367624.1:c.290C>T
  • NP_001354553.1:p.Pro97Leu
  • NC_000016.9:g.88494168C>T
Protein change:
P97L
Links:
dbSNP: rs273585617
NCBI 1000 Genomes Browser:
rs273585617
Molecular consequence:
  • NM_001367624.1:c.290C>T - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Keratoconus 1 (KTCN1)
Identifiers:
MONDO: MONDO:0007851; MedGen: C1835677; OMIM: 148300

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000148674Willoughby Group, Queen's University Belfastno assertion criteria providedpathogenicgermlinenot 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, SCV000148674.1

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

Description

Converted during submission to Pathogenic.

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

Last Updated: Apr 12, 2021

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