NM_020184.4(CNNM4):c.1220G>T (p.Arg407Leu) AND Jalili syndrome

Clinical significance:Pathogenic (Last evaluated: Aug 16, 2017)

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:
RCV000855673.2

Allele description [Variation Report for NM_020184.4(CNNM4):c.1220G>T (p.Arg407Leu)]

NM_020184.4(CNNM4):c.1220G>T (p.Arg407Leu)

Gene:
CNNM4:cyclin and CBS domain divalent metal cation transport mediator 4 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
2q11.2
Genomic location:
Preferred name:
NM_020184.4(CNNM4):c.1220G>T (p.Arg407Leu)
HGVS:
  • NC_000002.12:g.96762219G>T
  • NG_016608.1:g.6318G>T
  • NM_020184.4:c.1220G>TMANE SELECT
  • NP_064569.3:p.Arg407Leu
  • NC_000002.11:g.97427956G>T
  • NM_020184.3:c.1220G>T
Protein change:
R407L
Links:
dbSNP: rs1574047454
NCBI 1000 Genomes Browser:
rs1574047454
Molecular consequence:
  • NM_020184.4:c.1220G>T - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Jalili syndrome
Synonyms:
CONE-ROD DYSTROPHY AND AMELOGENESIS IMPERFECTA; Cone-rod dystrophy amelogenesis imperfecta; Cone-rod dystrophy with amelogenesis imperfecta
Identifiers:
MONDO: MONDO:0009007; MedGen: C3495589; Orphanet: 1873; OMIM: 217080

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000902267Institute of Human Genetics,University Hospital Ulmno assertion criteria providedPathogenic
(Aug 16, 2017)
germlineresearch

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
Punjabigermlineyes31not providednot providednot providedresearch

Details of each submission

From Institute of Human Genetics,University Hospital Ulm, SCV000902267.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1Punjabi3not providednot providedresearchnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyesnot providednot providednot provided3not provided1not provided

Last Updated: Sep 29, 2021

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