NM_004523.4(KIF11):c.381G>A (p.Trp127Ter) AND Syndromic retinitis pigmentosa

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Jun 23, 2019
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Somatic classification
of clinical impact:
None
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Somatic classification
of oncogenicity:
None
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Record status:
current
Accession:
RCV001003069.1

Allele description [Variation Report for NM_004523.4(KIF11):c.381G>A (p.Trp127Ter)]

NM_004523.4(KIF11):c.381G>A (p.Trp127Ter)

Gene:
KIF11:kinesin family member 11 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
10q23.33
Genomic location:
Preferred name:
NM_004523.4(KIF11):c.381G>A (p.Trp127Ter)
HGVS:
  • NC_000010.11:g.92607231G>A
  • NG_032580.1:g.19164G>A
  • NM_004523.4:c.381G>AMANE SELECT
  • NP_004514.2:p.Trp127Ter
  • NC_000010.10:g.94366988G>A
  • NM_004523.3:c.381G>A
Protein change:
W127*
Links:
dbSNP: rs1589590737
NCBI 1000 Genomes Browser:
rs1589590737
Molecular consequence:
  • NM_004523.4:c.381G>A - nonsense - [Sequence Ontology: SO:0001587]

Condition(s)

Name:
Syndromic retinitis pigmentosa
Identifiers:
MedGen: C5680332

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV001161126Sharon lab, Hadassah-Hebrew University Medical Center
no assertion criteria provided
Pathogenic
(Jun 23, 2019) 		inheritedresearch

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedinheritedyesnot providednot providednot providednot providednot providedresearch

Details of each submission

From Sharon lab, Hadassah-Hebrew University Medical Center, SCV001161126.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedresearchnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1inheritedyesnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Jun 23, 2024