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NM_001378477.3(NYX):c.1246_1247dup (p.Ala417fs) AND Congenital stationary night blindness

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:
RCV001003103.1

Allele description [Variation Report for NM_001378477.3(NYX):c.1246_1247dup (p.Ala417fs)]

NM_001378477.3(NYX):c.1246_1247dup (p.Ala417fs)

Gene:
NYX:nyctalopin [Gene - OMIM - HGNC]
Variant type:
Duplication
Cytogenetic location:
Xp11.4
Genomic location:
Preferred name:
NM_001378477.3(NYX):c.1246_1247dup (p.Ala417fs)
HGVS:
  • NC_000023.11:g.41474714_41474715dup
  • NG_009112.1:g.32255_32256dup
  • NM_001378477.3:c.1246_1247dupMANE SELECT
  • NM_022567.3:c.1246_1247dup
  • NP_001365406.2:p.Ala417fs
  • NP_072089.1:p.Ala422fs
  • NP_072089.2:p.Ala417fs
  • NC_000023.10:g.41333967_41333968dup
  • NM_022567.2:c.1261_1262dup
Protein change:
A417fs
Links:
dbSNP: rs1602181253
NCBI 1000 Genomes Browser:
rs1602181253
Molecular consequence:
  • NM_001378477.3:c.1246_1247dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_022567.3:c.1246_1247dup - frameshift variant - [Sequence Ontology: SO:0001589]

Condition(s)

Name:
Congenital stationary night blindness
Identifiers:
MONDO: MONDO:0016293; MedGen: C0339535; OMIM: PS310500; Human Phenotype Ontology: HP:0007642

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV001161168Sharon 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, SCV001161168.1

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

Last Updated: Apr 23, 2022