Genomic variant #0000170842

Individual ID 00104947
Chromosome 7
Allele Unknown
Affects function (as reported) Effect unknown
Affects function (by curator) Not classified
DNA change (genomic) (Relative to hg19 / GRCh37) g.83631341A>G
DNA change (hg38) g.84002025A>G
Published as -
ISCN -
DB-ID SEMA3A_000015
Variant remarks -
Reference -
ClinVar ID -
dbSNP ID rs144690677
Origin Germline
Segregation no
Frequency -
Re-site -
VIP 0
Methylation -
Average frequency (large NGS studies) 0.00038 View details
Owner Anna Alkelai




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

ClassClinical     

RNA change     

Protein     
SEMA3A NM_006080.2 ?/. 12 c.1382T>C - r.(?) p.(Val461Ala)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000105422 DNA SEQ-NG-IT - - - 1 Anna Alkelai