Genomic variant #0000132539

Individual ID 00081725
Chromosome 7
Allele Paternal (confirmed)
Affects function (as reported) Does not affect function
Affects function (by curator) Not classified
DNA change (genomic) (Relative to hg19 / GRCh37) g.83643687G>A
DNA change (hg38) g.84014371G>A
Published as -
ISCN -
DB-ID SEMA3A_000003 See all 3 reported entries
Variant remarks -
Reference PubMed: Hofmann 2013, Journal: Hofmann 2013
ClinVar ID -
dbSNP ID -
Origin Germline
Segregation -
Frequency -
Re-site -
VIP 0
Methylation -
Average frequency (large NGS studies) 0.42955 View details
Owner Johan den Dunnen




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

ClassClinical     

RNA change     

Protein     
SEMA3A NM_006080.2 -/. 6i c.668-20C>T - r.= p.=



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