Genomic variant #0000000686

Individual ID 00000010
Chromosome 19
Allele Both (homozygous)
Affects function (reported) Effect unknown
Affects function (concluded) Not classified
DNA change (genomic) (Relative to hg19 / GRCh37) g.51850290G>A
DNA change (hg38) -
Published as -
ISCN -
DB-ID ETFB_000001 See all 68 reported entries
Variant remarks -
Reference -
dbSNP ID -
Germline/Somatic/De novo 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)     

Class.     

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     
0000000010 DNA NGS - - ACADM, ATP7B, BTD, CLN3, CPT1A, DGUOK, ERCC6, ETFB, NHLRC1, PAH 12 LOVD-team, but with Curator vacancy