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NM_018087.5(NDC1):c.1106G>A (p.Cys369Tyr) AND multiple conditions

Germline classification:
Uncertain significance (1 submission)
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:
RCV000844758.3

Allele description [Variation Report for NM_018087.5(NDC1):c.1106G>A (p.Cys369Tyr)]

NM_018087.5(NDC1):c.1106G>A (p.Cys369Tyr)

Gene:
NDC1:NDC1 transmembrane nucleoporin [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
1p32.3
Genomic location:
Preferred name:
NM_018087.5(NDC1):c.1106G>A (p.Cys369Tyr)
HGVS:
  • NC_000001.11:g.53800809C>T
  • NM_001168551.2:c.986G>A
  • NM_018087.5:c.1106G>AMANE SELECT
  • NP_001162023.1:p.Cys329Tyr
  • NP_060557.3:p.Cys369Tyr
  • NC_000001.10:g.54266482C>T
  • NM_018087.4:c.1106G>A
  • NR_033142.2:n.1020G>A
Protein change:
C329Y
Links:
dbSNP: rs1570193658
NCBI 1000 Genomes Browser:
rs1570193658
Molecular consequence:
  • NM_001168551.2:c.986G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_018087.5:c.1106G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NR_033142.2:n.1020G>A - non-coding transcript variant - [Sequence Ontology: SO:0001619]

Condition(s)

Name:
Global developmental delay (DD)
Identifiers:
MedGen: C0557874; Human Phenotype Ontology: HP:0001263
Name:
Retinal disorder
Synonyms:
Retinopathy; Retinopathies; Retinal Diseases
Identifiers:
MONDO: MONDO:0005283; MedGen: C0035309; Human Phenotype Ontology: HP:0000488
Name:
Cleft palate
Identifiers:
MONDO: MONDO:0016064; MedGen: C2981150; Human Phenotype Ontology: HP:0000175

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000886521Hadassah Hebrew University Medical Center
no assertion criteria provided
Uncertain significancegermlineresearch

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineyesnot providednot providednot providednot providednot providedresearch

Details of each submission

From Hadassah Hebrew University Medical Center, SCV000886521.1

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

Last Updated: Oct 8, 2024