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NM_000266.4(NDP):c.269G>A (p.Arg90His) AND Atrophia bulborum hereditaria

Germline classification:
Likely 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:
RCV001003091.1

Allele description [Variation Report for NM_000266.4(NDP):c.269G>A (p.Arg90His)]

NM_000266.4(NDP):c.269G>A (p.Arg90His)

Genes:
NDP-AS1:NDP antisense RNA 1 [Gene - HGNC]
NDP:norrin cystine knot growth factor NDP [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
Xp11.3
Genomic location:
Preferred name:
NM_000266.4(NDP):c.269G>A (p.Arg90His)
HGVS:
  • NC_000023.11:g.43949932C>T
  • NG_009832.1:g.28744G>A
  • NM_000266.4:c.269G>AMANE SELECT
  • NP_000257.1:p.Arg90His
  • NC_000023.10:g.43809178C>T
  • NM_000266.3:c.269G>A
  • NR_046631.1:n.201C>T
Protein change:
R90H
Links:
dbSNP: rs104894867
NCBI 1000 Genomes Browser:
rs104894867
Molecular consequence:
  • NM_000266.4:c.269G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NR_046631.1:n.201C>T - non-coding transcript variant - [Sequence Ontology: SO:0001619]

Condition(s)

Name:
Atrophia bulborum hereditaria (ND)
Synonyms:
Pseudoglioma; Episkopi blindness; Norrie syndrome; See all synonyms [MedGen]
Identifiers:
MONDO: MONDO:0010691; MedGen: C0266526; Orphanet: 649; OMIM: 310600; Human Phenotype Ontology: HP:6000262

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV001161152Sharon lab, Hadassah-Hebrew University Medical Center
no assertion criteria provided
Likely 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, SCV001161152.1

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

Last Updated: Sep 29, 2024