Genomic variant #0000172090

Individual ID 00106098
Chromosome 3
Allele Parent #1
Affects function (as reported) Affects function
Affects function (by curator) Affects function
Classification method -
Clinical classification pathogenic
DNA change (genomic) (Relative to hg19 / GRCh37) g.15685874G>A
DNA change (hg38) g.15644367G>A
Published as -
ISCN -
DB-ID BTD_000076 See all 16 reported entries
Variant remarks -
Reference PubMed: Wiltink 2016
ClinVar ID -
dbSNP ID rs13073139
Origin Germline
Segregation -
Frequency -
Re-site -
VIP 0
Methylation -
Average frequency (large NGS studies) 0.00038 View details
Owner Jasper Saris
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
BTD NM_000060.2 ?/. 4 c.511G>A r.(?) p.(Ala171Thr)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000106569 DNA SEQ - - BTD 3 Jasper Saris