Variant #0000172048 (NC_000003.11:g.15677019G>A, BTD(NM_000060.2):c.133G>A)

Individual ID 00106076
Chromosome 3
Allele Parent #1
Affects function (as reported) Effect unknown
Affects function (by curator) Effect unknown
Classification method -
Clinical classification VUS
DNA change (genomic) (Relative to hg19 / GRCh37) g.15677019G>A
DNA change (hg38) g.15635512G>A
Published as -
ISCN -
DB-ID BTD_000024 See all 10 reported entries
Variant remarks -
Reference PubMed: Wiltink 2016
ClinVar ID -
dbSNP ID rs34885143
Origin Germline
Segregation -
Frequency -
Re-site -
VIP 0
Methylation -
Average frequency (gnomAD v.2.1.1) 0.0102 View details
Owner Jasper Saris
Database submission license No license selected
Created by Jasper Saris
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
BTD NM_000060.2 ?/? 2 c.133G>A r.(?) p.(Gly45Arg)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000106547 DNA SEQ - - BTD 2 Jasper Saris