Genomic variant #0000000912

Individual ID 00000089
Chromosome 3
Allele Unknown
Affects function (as reported) Effect unknown
Affects function (by curator) Not classified
DNA change (genomic) (Relative to hg19 / GRCh37) g.15686693G>C
DNA change (hg38) -
Published as -
ISCN -
DB-ID BTD_000021 See all 70 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




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

ClassClinical     

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     
0000000089 DNA SEQ-NG - - ATP7B, BTD, CFTR, ETFB, GALC, GLB1, IGHMBP2, SMPD1 9 LOVD-team, but with Curator vacancy