Genomic variant #0000172048

Individual ID 00106076
Chromosome 3
Allele Parent #1
Affects function (as reported) Effect unknown
Affects function (by curator) Effect unknown
DNA change (genomic) (Relative to hg19 / GRCh37) g.15677019G>A
DNA change (hg38) -
Published as -
ISCN -
DB-ID BTD_000024 See all 9 reported entries
Variant remarks -
Reference PubMed: Wiltink 2016
ClinVar ID -
dbSNP ID rs34885143
Origin Germline
Segregation -
Frequency -
Re-site -
VIP 0
Methylation -
Average frequency (large NGS studies) 0.01115 View details
Owner Jasper Saris




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

ClassClinical     

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