Genomic variant #0000568286

Chromosome 19
Allele Unknown
Affects function (as reported) Probably does not affect function
Affects function (by curator) Not classified
DNA change (genomic) (Relative to hg19 / GRCh37) g.51856483G>A
DNA change (hg38) -
Published as ETFB(NM_001014763.1):c.551C>T (p.P184L)
ISCN -
DB-ID ETFB_000012
Variant remarks VKGL data sharing initiative Nederland
Reference -
ClinVar ID -
dbSNP ID -
Origin CLASSIFICATION record
Segregation -
Frequency -
Re-site -
VIP -
Methylation -
Average frequency (large NGS studies) 0.00038 View details
Owner VKGL-NL_Rotterdam
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

ClassClinical     

RNA change     

Protein     
ETFB NM_001014763.1 -?/. - c.551C>T likely benign r.(?) p.(Pro184Leu)
ETFB NM_001985.2 -?/. - c.278C>T likely benign r.(?) p.(Pro93Leu)