Genomic variant #0000060490

Individual ID 00033144
Chromosome 1
Allele Parent #1
Affects function (as reported) Effect unknown
Affects function (by curator) Not classified
DNA change (genomic) (Relative to hg19 / GRCh37) g.156146546C>T
DNA change (hg38) g.156176755C>T
Published as -
ISCN -
DB-ID SEMA4A_000001 See all 3 reported entries
Variant remarks not segregating with disease in other family
Reference PubMed: Neveling 2012
ClinVar ID -
dbSNP ID -
Origin Germline
Segregation no
Frequency -
Re-site -
VIP 0
Methylation -
Average frequency (large NGS studies) 0.01415 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.2044C>T - r.(?) p.(Pro682Ser)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000033212 DNA SEQ;SEQ-NG-S - - CRB1, PDE6B, SEMA4A 5 Kornelia Neveling