Genomic variant #0000000682

Individual ID 00000047
Chromosome 19
Allele Unknown
Affects function (as reported) Effect unknown
Affects function (by curator) Not classified
DNA change (genomic) (Relative to hg19 / GRCh37) g.41928541_41928548del
DNA change (hg38) g.41422636_41422643del
Published as chr19:g.46620381_46620388delGAGGCCCC
ISCN -
DB-ID BCKDHA_000001
Variant remarks -
Reference -
ClinVar ID -
dbSNP ID -
Origin Germline
Segregation -
Frequency -
Re-site -
VIP -
Methylation -
Average frequency (large NGS studies) Variant not found in online data sets
Owner Gerard C.P. Schaafsma




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

ClassClinical     

RNA change     

Protein     
BCKDHA NM_000709.3 ?/. - c.861_868del - r.(?) p.(Gly288Valfs*11)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000000047 DNA SEQ-NG - - ATP7B, BCKDHA, DPYD, ETFB, HEXB, IGHMBP2, KMT2A, MEFV, MPL, MYO5A, NHLRC1, NPC1, NPHS1, SERPINA1 16 LOVD-team, but with Curator vacancy