Genomic variant #0000132569

Chromosome 7
Allele Unknown
Affects function (as reported) Affects function
Affects function (by curator) Not classified
DNA change (genomic) (Relative to hg19 / GRCh37) g.83610663_83610676del
DNA change (hg38) g.83981347_83981360del
Published as del1613_1626 (D538fsX31)
ISCN -
DB-ID SEMA3A_000013 See all 2 reported entries
Variant remarks cDNA expression cloning in COS7 cells showed impaired SEMA3A secretion and in GN11 cells (embryonic) reduced SEMA3A signaling activity
Reference PubMed: Hanchate 2012, Journal: Hanchate 2012
ClinVar ID -
dbSNP ID -
Origin In vitro (cloned)
Segregation -
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 +/. 14 c.1613_1626del - - p.(Asp538Valfs*31)