Genomic variant #0000001250

Individual ID 00000064
Chromosome 7
Allele Unknown
Affects function (as reported) Effect unknown
Affects function (by curator) Not classified
DNA change (genomic) (Relative to hg19 / GRCh37) g.66453476A>G
DNA change (hg38) g.66988489A>G
Published as -
ISCN -
DB-ID SBDS_000001 See all 12 reported entries
Variant remarks -
Reference -
ClinVar ID -
dbSNP ID -
Origin Germline
Segregation -
Frequency -
Re-site -
VIP -
Methylation -
Average frequency (large NGS studies) 0.02791 View details
Owner Gerard C.P. Schaafsma




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

ClassClinical     

RNA change     

Protein     
SBDS NM_016038.2 ?/. - c.635T>C - r.(?) p.(Ile212Thr)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000000064 DNA SEQ-NG - - ATP7B, CYP21A2, ETFB, FKTN, GLB1, HEXB, IGHMBP2, LYST, NHLRC1, PMM2, SBDS, SMPD1 12 LOVD-team, but with Curator vacancy