Genomic variant #0000267899

Chromosome 19
Allele Unknown
Affects function (as reported) Does not affect function
Affects function (by curator) Not classified
DNA change (genomic) (Relative to hg19 / GRCh37) g.51850290G>A
DNA change (hg38) -
Published as ETFB(NM_001014763.1):c.734C>T (p.T245M)
ISCN -
DB-ID ETFB_000001 See all 69 reported entries
Variant remarks VKGL data sharing initiative Nederland
Reference -
ClinVar ID -
dbSNP ID -
Origin CLASSIFICATION record
Segregation -
Frequency -
Re-site -
VIP 0
Methylation -
Average frequency (large NGS studies) 0.54183 View details
Owner VKGL-NL




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

ClassClinical     

RNA change     

Protein     
ETFB NM_001014763.1 -/. - c.734C>T benign r.(?) p.(Thr245Met)
VSIG10L NM_001163922.1 -/. - c.-4912C>T benign r.(?) p.(=)
ETFB NM_001985.2 -/. - c.461C>T benign r.(?) p.(Thr154Met)