Genomic variant #0000001254

Individual ID 00000039
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 11 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     
0000000039 DNA SEQ-NG - - AHI1, ATP7B, DPYD, ETFB, GAA, GLB1, LAMA2, MTHFR, NPHP4, NPHS1, P3H1, SBDS, SLC26A2 16 LOVD-team, but with Curator vacancy