Genomic variant #0000132549

Individual ID 00081730
Chromosome 7
Allele Unknown
Affects function (as reported) Affects function
Affects function (by curator) Not classified
DNA change (genomic) (Relative to hg19 / GRCh37) g.83634817T>C
DNA change (hg38) g.84005501T>C
Published as -
ISCN -
DB-ID SEMA3A_000009 See all 2 reported entries
Variant remarks not in 1544 control chromosomes
Reference PubMed: Hanchate 2012, Journal: Hanchate 2012
ClinVar ID -
dbSNP ID -
Origin Germline
Segregation -
Frequency 1/386 cases
Re-site -
VIP 0
Methylation -
Average frequency (large NGS studies) 0.00115 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 +/. 11 c.1198A>G - r.(?) p.(Ile400Val)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000081859 DNA SEQ - - PROKR2, SEMA3A 2 Johan den Dunnen