Genomic variant #0000172062

Individual ID 00105979
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.15677133_15677141del
DNA change (hg38) g.15635626_15635634del
Published as -
ISCN -
DB-ID BTD_000055
Variant remarks -
Reference PubMed: Pomponio 1997
ClinVar ID -
dbSNP ID -
Origin Germline
Segregation -
Frequency -
Re-site -
VIP 0
Methylation -
Average frequency (large NGS studies) Variant not found in online data sets
Owner Jasper Saris
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
BTD NM_000060.2 +/. 2 c.247_255del r.(?) p.(Leu83_Leu85del)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000106450 DNA SEQ - - BTD 1 Jasper Saris