Genomic variant #0000000714

Individual ID 00000012
Chromosome 19
Allele Both (homozygous)
Affects function (as reported) Effect unknown
Affects function (by curator) Not classified
DNA change (genomic) (Relative to hg19 / GRCh37) g.51850290G>A
DNA change (hg38) g.51347036G>A
Published as -
ISCN -
DB-ID ETFB_000001 See all 69 reported entries
Variant remarks -
Reference -
ClinVar ID -
dbSNP ID -
Origin Germline
Segregation -
Frequency -
Re-site -
VIP -
Methylation -
Average frequency (large NGS studies) 0.54183 View details
Owner Gerard C.P. Schaafsma




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

ClassClinical     

RNA change     

Protein     
ETFB NM_001014763.1 ?/. - c.734C>T - r.(?) p.(Thr245Met)
ETFB NM_001985.2 ?/. - c.461C>T - r.(?) p.(Thr154Met)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000000012 DNA NGS - - ACADVL, ADA, AGL, ATP7B, CYP21A2, DPYD, ETFB, GBA, HGSNAT, IGHMBP2, LAMA2, MYO5A, NHLRC1, NPHS1, SERPINA1, SLC26A2 16 LOVD-team, but with Curator vacancy