Variant #0000000729 (NC_000019.9:g.51850290G>A, ETFB(NM_001985.2):c.461C>T)

Individual ID 00000051
Chromosome 19
Allele Both (homozygous)
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.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 (gnomAD v.2.1.1) 0.4852 View details
Owner Gerard C.P. Schaafsma
Database submission license No license selected
Created by Gerard C.P. Schaafsma
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Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

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     
0000000051 DNA SEQ-NG - - AGXT, AHI1, ATP7B, DPYD, ETFB, FAH, GALC, GLB1, IGHMBP2, MYO5A, NHLRC1, NPHS1, PKHD1 14 Global Variome, with Curator vacancy