Variant #0000172044 (NC_000003.11:g.15676984_15676990delinsTCC, BTD(NM_000060.2):c.98_104delinsTCC)

Individual ID 00105965
Chromosome 3
Allele Unknown
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.15676984_15676990delinsTCC
DNA change (hg38) g.15635477_15635483delinsTCC
Published as -
ISCN -
DB-ID BTD_000109 See all 5 reported entries
Variant remarks -
Reference -
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     
0000106436 DNA SEQ - - BTD 7 Jasper Saris