NM_001453.2(FOXC1):c.141C>G (p.Tyr47Ter) AND not provided

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:
RCV000190252.1

Allele description [Variation Report for NM_001453.2(FOXC1):c.141C>G (p.Tyr47Ter)]

NM_001453.2(FOXC1):c.141C>G (p.Tyr47Ter)

Gene:
FOXC1:forkhead box C1 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
6p25.3
Genomic location:
Preferred name:
NM_001453.2(FOXC1):c.141C>G (p.Tyr47Ter)
HGVS:
  • NC_000006.12:g.1610586C>G
  • NG_009368.1:g.5141C>G
  • NM_001453.2:c.141C>G
  • NP_001444.2:p.Tyr47Ter
  • NC_000006.11:g.1610821C>G
Protein change:
Y47*
Links:
dbSNP: rs372857241
NCBI 1000 Genomes Browser:
rs372857241
Molecular consequence:
  • NM_001453.2:c.141C>G - nonsense - [Sequence Ontology: SO:0001587]

Condition(s)

Identifiers:
MedGen: CN517202

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000119898Human Genetics School of Medicine of Albacete, Castilla-La Mancha Universityno assertion criteria providedpathogenicinheritednot provided

Description

Late-onset Primary Congenital Glaucoma/Juvenile Open Angle Glaucoma

SCV000119898

Summary from all submissions

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

Details of each submission

From Human Genetics School of Medicine of Albacete, Castilla-La Mancha University, SCV000119898.1

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

Description

Converted during submission to Pathogenic.

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

Last Updated: Oct 10, 2018