Genomic variant #0000532834

Chromosome 7
Allele Unknown
Affects function (as reported) Effect unknown
Affects function (by curator) Not classified
DNA change (genomic) (Relative to hg19 / GRCh37) g.83643592C>T
DNA change (hg38) -
Published as SEMA3A(NM_006080.2):c.743G>A (p.(Arg248His))
ISCN -
DB-ID SEMA3A_000028
Variant remarks VKGL data sharing initiative Nederland
Reference -
ClinVar ID -
dbSNP ID -
Origin CLASSIFICATION record
Segregation -
Frequency -
Re-site -
VIP -
Methylation -
Average frequency (large NGS studies) Variant not found in online data sets
Owner VKGL-NL




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

ClassClinical     

RNA change     

Protein     
SEMA3A NM_006080.2 ?/. - c.743G>A VUS r.(?) p.(Arg248His)