Genomic variant #0000132538

Individual ID 00081725
Chromosome 7
Allele Maternal (confirmed)
Affects function (as reported) Affects function
Affects function (by curator) Not classified
DNA change (genomic) (Relative to hg19 / GRCh37) g.83640384_83640388delinsCATTAGAAGATGTA
DNA change (hg38) g.84011068_84011072delinsCATTAGAAGATGTA
Published as -
ISCN -
DB-ID SEMA3A_000002
Variant remarks inheritance maternal allele proven by cloning/linked variants
Reference PubMed: Hofmann 2013, Journal: Hofmann 2013
ClinVar ID -
dbSNP ID -
Origin De novo
Segregation yes
Frequency -
Re-site -
VIP 0
Methylation -
Average frequency (large NGS studies) Variant not found in online data sets
Owner Johan den Dunnen




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

ClassClinical     

RNA change     

Protein     
SEMA3A NM_006080.2 +/. 9 c.945_949delinsTACATCTTCTAATG - r.[925_926ins925+1_926-1,945_949delinsuacaucuucuaaug] p.[Gln309fs,Phe316_Lys317delinsThrSerSerAsnGlu]



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000081854 DNA;RNA arraySNP;MLPA;RT-PCR;SEQ - - SEMA3A 4 Johan den Dunnen