Genomic variant #0000170839

Individual ID 00104944
Chromosome 7
Allele Maternal (confirmed)
Affects function (as reported) Effect unknown
Affects function (by curator) Not classified
DNA change (genomic) (Relative to hg19 / GRCh37) g.83590853G>A
DNA change (hg38) g.83961537G>A
Published as -
ISCN -
DB-ID SEMA3A_000014
Variant remarks -
Reference -
ClinVar ID -
dbSNP ID rs138952094
Origin Germline
Segregation yes
Frequency -
Re-site -
VIP 0
Methylation -
Average frequency (large NGS studies) 0.00023 View details
Owner Anna Alkelai




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

ClassClinical     

RNA change     

Protein     
SEMA3A NM_006080.2 ?/. 16 c.2150C>T - r.(?) p.(Thr717Ile)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000105419 DNA SEQ-NG-I - - - 2 Anna Alkelai