Genomic variant #0000132542

Individual ID 00081726
Chromosome 7
Allele Paternal (confirmed)
Affects function (as reported) Affects function
Affects function (by curator) Effect unknown
DNA change (genomic) (Relative to hg19 / GRCh37) g.(83463000_83587659)_(83643668_83675639)_del
DNA change (hg38) -
Published as -
ISCN -
DB-ID SEMA3A_000000
Variant remarks 213 kb deletion, not in 1040 control chromosomes; no variants on other allele; Hanchate (2012) question the autosomal dominant mendelian inheritance and suggested a variant in another gene combined with SEMA3A haploinsufficiency associates with the disease phenotype
Reference PubMed: Young 2012, Journal: Young 2012, OMIM:var0001, PubMed: Hanchate 2012
ClinVar ID -
dbSNP ID -
Origin Germline
Segregation yes
Frequency -
Re-site -
VIP 0
Methylation -
Average frequency (large NGS studies) Genomic location of variant could not be determined
Owner Johan den Dunnen




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

ClassClinical     

RNA change     

Protein     
SEMA3A NM_006080.2 +/? 6i_17_ c.(667+1_668-1)_(*3028_?)del - r.? p.?



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000081855 DNA arrayCNV - - SEMA3A 1 Johan den Dunnen