Variant #0000172089 (NC_000003.11:g.15685874G>A, BTD(NM_000060.2):c.511G>A)

Individual ID 00106000
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.15685874G>A
DNA change (hg38) g.15644367G>A
Published as -
ISCN -
DB-ID BTD_000076 See all 16 reported entries
Variant remarks -
Reference PubMed: Norrgard 1997
ClinVar ID -
dbSNP ID rs13073139
Origin Germline
Segregation -
Frequency -
Re-site -
VIP 0
Methylation -
Average frequency (gnomAD v.2.1.1) 0.00033 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 +/. 4 c.511G>A r.(?) p.(Ala171Thr)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000106471 DNA SEQ - - BTD 1 Jasper Saris