Genomic variant #0000172085

Individual ID 00106083
Chromosome 3
Allele Both (homozygous)
Affects function (as reported) Affects function
Affects function (by curator) Affects function
DNA change (genomic) (Relative to hg19 / GRCh37) g.15685833G>A
DNA change (hg38) -
Published as -
ISCN -
DB-ID BTD_000073 See all 5 reported entries
Variant remarks -
Reference PubMed: Wiltink 2016
ClinVar ID -
dbSNP ID -
Origin Germline
Segregation -
Frequency -
Re-site -
VIP 0
Methylation -
Average frequency (large NGS studies) 0.00023 View details
Owner Jasper Saris




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

ClassClinical     

RNA change     

Protein     
BTD NM_000060.2 +/+ 4 c.470G>A - r.(?) p.(Arg157His)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000106554 DNA SEQ - - BTD 1 Jasper Saris