Genomic variant #0000060491

Individual ID 00033091
Chromosome 1
Allele Parent #1
Affects function (as reported) Does not affect function
Affects function (by curator) Not classified
DNA change (genomic) (Relative to hg19 / GRCh37) g.156146640G>A
DNA change (hg38) g.156176849G>A
Published as -
ISCN -
DB-ID SEMA4A_000002 See all 18 reported entries
Variant remarks not segregating with disease in other families
Reference PubMed: Neveling 2012
ClinVar ID -
dbSNP ID -
Origin Germline
Segregation yes
Frequency -
Re-site -
VIP 0
Methylation -
Average frequency (large NGS studies) 0.03468 View details
Owner Kornelia Neveling




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

ClassClinical     

RNA change     

Protein     
SEMA4A NM_001193301.1 -/. 15 c.2138G>A - r.(?) p.(Arg713Gln)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000033159 DNA SEQ;SEQ-NG-S - - CC2D2A, CRB1, RP2, SEMA4A, TOPORS 6 Kornelia Neveling