Variant #0000786769 (NC_000003.11:g.15676984_15676990delinsTCC, BTD(NM_000060.2):c.98_104delinsTCC)

Individual ID 00374224
Chromosome 3
Allele Unknown
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.15676984_15676990delinsTCC
DNA change (hg38) g.15635477_15635483delinsTCC
Published as -
ISCN -
DB-ID BTD_000109 See all 5 reported entries
Variant remarks no variant 2nd chromosome
Reference PubMed: Ganapathy 2019
ClinVar ID -
dbSNP ID -
Origin Germline
Segregation -
Frequency -
Re-site -
VIP 0
Methylation -
Average frequency (gnomAD v.2.1.1) Variant not found in online data sets
Owner Johan den Dunnen
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by Johan den Dunnen
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.(Cys33PhefsTer36)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000375418 DNA SEQ-NG - TruSight One panel BTD 1 Johan den Dunnen