Genomic variant #0000532471

Chromosome 7
Allele Unknown
Affects function (as reported) Affects function
Affects function (by curator) Not classified
DNA change (genomic) (Relative to hg19 / GRCh37) g.66458368_66458371del
DNA change (hg38) -
Published as SBDS(NM_016038.2):c.297_300delAAGA (p.E99Dfs*21)
ISCN -
DB-ID SBDS_000014
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     
SBDS NM_016038.2 +/. - c.297_300del pathogenic r.(?) p.(Glu99Aspfs*21)