Genomic variant #0000172059

Individual ID 00105976
Chromosome 3
Allele Parent #1
Affects function (as reported) Affects function
Affects function (by curator) Not classified
Classification method -
Clinical classification pathogenic
DNA change (genomic) (Relative to hg19 / GRCh37) g.15677121C>T
DNA change (hg38) g.15635614C>T
Published as -
ISCN -
DB-ID BTD_000052 See all 2 reported entries
Variant remarks -
Reference PubMed: Pomponio 2000
ClinVar ID -
dbSNP ID -
Origin Germline
Segregation -
Frequency -
Re-site -
VIP 0
Methylation -
Average frequency (large NGS studies) Variant not found in online data sets
Owner Jasper Saris
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
BTD NM_000060.2 +/. 2 c.235C>T r.(?) p.(Arg79Cys)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000106447 DNA SEQ - - BTD 1 Jasper Saris