Genomic variant #0000168853

Individual ID 00103740
Chromosome 7
Allele Unknown
Affects function (as reported) Effect unknown
Affects function (by curator) Not classified
DNA change (genomic) (Relative to hg19 / GRCh37) g.83764184G>A
DNA change (hg38) g.84134868G>A
Published as g.65034C>T
ISCN -
DB-ID SEMA3A_000007 See all 4 reported entries
Variant remarks -
Reference PubMed: Neubauer 2018, Journal: Neubauer 2018
ClinVar ID -
dbSNP ID rs199979628
Origin Unknown
Segregation -
Frequency -
Re-site -
VIP 0
Methylation -
Average frequency (large NGS studies) 0.00031 View details
Owner Cordula Haas




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

ClassClinical     

RNA change     

Protein     
SEMA3A NM_006080.2 ?/. 2 c.196C>T - r.(?) p.(Arg66Trp)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000104197 DNA SEQ-NG-I - - - 1 Cordula Haas