Variant #0000172045 (NC_000003.11:g.15676984_15676990delinsTCC, BTD(NM_000060.2):c.98_104delinsTCC)

Individual ID 00105966
Chromosome 3
Allele Parent #1
Affects function (as reported) Affects function
Affects function (by curator) Effect unknown
Classification method -
Clinical classification pathogenic
DNA change (genomic) (Relative to hg19 / GRCh37) g.15676984_15676990delinsTCC
DNA change (hg38) g.15635477_15635483delinsTCC
Published as -
ISCN -
DB-ID BTD_000109 See all 5 reported entries
Variant remarks -
Reference PubMed: Pomponio 1995, OMIM:var0001
ClinVar ID -
dbSNP ID rs80338684
Origin Germline
Segregation -
Frequency -
Re-site -
VIP 0
Methylation -
Average frequency (gnomAD v.2.1.1) Variant not found in online data sets
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.98_104delinsTCC r.(?) p.(Cys33Phefs*36)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000106437 DNA SEQ - - BTD 1 Jasper Saris