Genomic variant #0000169375

Individual ID 00104024
Chromosome 7
Allele Unknown
Affects function (as reported) Probably affects function
Affects function (by curator) Not classified
DNA change (genomic) (Relative to hg19 / GRCh37) g.66459197A>G
DNA change (hg38) g.66994210A>G
Published as NM_016038.2(SBDS):c.258+2T>C r.spl p.?
ISCN -
DB-ID SBDS_000002 See all 4 reported entries
Variant remarks variant could not be associated with disease phenotype
Reference PubMed: Vogelaar 2017, Journal: Vogelaar 2017
ClinVar ID -
dbSNP ID -
Origin Germline
Segregation -
Frequency -
Re-site -
VIP 0
Methylation -
Average frequency (large NGS studies) 0.00284 View details
Owner Marjolijn JL Ligtenberg




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

ClassClinical     

RNA change     

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



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000104495 DNA SEQ-NG - - - 2 Marjolijn JL Ligtenberg