Genomic variant #0000079015

Individual ID 00050103
Chromosome 17
Allele Unknown
Affects function (as reported) Probably affects function
Affects function (by curator) Not classified
Classification method -
Clinical classification likely pathogenic
DNA change (genomic) (Relative to hg19 / GRCh37) g.(16000001_22200000)del
DNA change (hg38) -
Published as del(17)(p11.2)
ISCN -
DB-ID RAI1_000000
Variant remarks 3.4 Mb deletion incl. RAI1 may contribute to some
aspects of the sleep/behavioral/cognitive deficits (similar phenotypes in Smith-Magenis syndrome patients)
Reference PubMed: Lu 2007, Journal: Lu 2007
ClinVar ID -
dbSNP ID -
Origin Unknown
Segregation -
Frequency -
Re-site -
VIP 0
Methylation -
Average frequency (large NGS studies) Variant not found in online data sets
Owner Johan den Dunnen
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
RAI1 NM_030665.3 +?/. _1_6_ c.0 r.0 p.0



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000050045 DNA;RNA FISH;PCR;RT-PCR;SEQ - - PCDH11Y, ROBO2 5 Johan den Dunnen