Genomic variant #0000248248

Chromosome 7
Allele Unknown
Affects function (as reported) Does not affect function
Affects function (by curator) Not classified
DNA change (genomic) (Relative to hg19 / GRCh37) g.66453476A>G
DNA change (hg38) -
Published as SBDS:c.635T>C (I212T)
ISCN -
DB-ID SBDS_000001 See all 11 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) 0.02791 View details
Owner VKGL-NL_Groningen




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

ClassClinical     

RNA change     

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