Genomic variant #0000000909

Individual ID 00000021
Chromosome 3
Allele Unknown
Affects function (as reported) Effect unknown
Affects function (by curator) Not classified
Classification method -
Clinical classification VUS
DNA change (genomic) (Relative to hg19 / GRCh37) g.15686693G>C
DNA change (hg38) g.15645186G>C
Published as -
ISCN -
DB-ID BTD_000021 See all 74 reported entries
Variant remarks -
Reference -
ClinVar ID -
dbSNP ID -
Origin Germline
Segregation -
Frequency -
Re-site -
VIP -
Methylation -
Average frequency (large NGS studies) 0.03006 View details
Owner Gerard C.P. Schaafsma
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
BTD NM_000060.2 ?/. - c.1330G>C r.(?) p.(Asp444His)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000000021 DNA SEQ-NG - - ALPL, BTD, CBS, DKC1, ETFB, GLB1, SBDS, SERPINA1 7 Global Variome, with Curator vacancy