Genomic variant #0000255393

Chromosome 7
Allele Unknown
Affects function (as reported) Affects function
Affects function (by curator) Not classified
Classification method -
Clinical classification pathogenic
DNA change (genomic) (Relative to hg19 / GRCh37) g.66459197A>G
DNA change (hg38) g.66994210A>G
Published as SBDS(NM_016038.2):c.258+2T>C (, p.?)
ISCN -
DB-ID SBDS_000002 See all 9 reported entries
Variant remarks VKGL data sharing initiative Nederland
Reference -
ClinVar ID -
dbSNP ID -
Origin CLASSIFICATION record
Segregation -
Frequency -
Re-site -
VIP 0
Methylation -
Average frequency (large NGS studies) 0.00284 View details
Owner VKGL-NL_Rotterdam
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
SBDS NM_016038.2 +/. - c.258+2T>C r.spl? p.?