Genomic variant #0000307716

Chromosome 7
Allele Unknown
Affects function (as reported) Affects function
Affects function (by curator) Not classified
DNA change (genomic) (Relative to hg19 / GRCh37) g.66459273_66459274delinsAG
DNA change (hg38) -
Published as SBDS:c.183_184delTAinsCT (K62*)
ISCN -
DB-ID SBDS_000008 See all 2 reported entries
Variant remarks VKGL data sharing initiative Nederland; correct HGVS to be checked
Reference -
ClinVar ID -
dbSNP ID -
Origin CLASSIFICATION record
Segregation -
Frequency -
Re-site -
VIP 0
Methylation -
Average frequency (large NGS studies) Variant not found in online data sets
Owner VKGL-NL_Rotterdam




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

ClassClinical     

RNA change     

Protein     
SBDS NM_016038.2 +/. - c.183_184delinsCT pathogenic r.(?) p.(Lys62*)