Genomic variant #0000132562

Individual ID 00081737
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 not in 1544 control chromosomes
Reference PubMed: Hanchate 2012, Journal: Hanchate 2012, OMIM:var0003
ClinVar ID -
dbSNP ID rs147436181
Origin Germline
Segregation -
Frequency 1/386 cases
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 - r.(?) p.(Asp538Valfs*31)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000081866 DNA SEQ - - SEMA3A 1 Johan den Dunnen