Variant #0000000009 (NC_000001.10:g.76198571C>T, ACADM(NM_000016.4):c.250C>T)

Individual ID 00000009
Chromosome 1
Allele Unknown
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.76198571C>T
DNA change (hg38) g.75732886C>T
Published as -
ISCN -
DB-ID ACADM_000002
Variant remarks -
Reference -
ClinVar ID -
dbSNP ID -
Origin Germline
Segregation -
Frequency -
Re-site -
VIP -
Methylation -
Average frequency (large NGS studies) 7.0E-5 View details
Owner Gerard C.P. Schaafsma
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
ACADM NM_000016.4 ?/. - c.250C>T r.(?) p.(Leu84Phe)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000000009 DNA SEQ-NG - - ACADM, ARSB, ATP7B, CFTR, CLN3, ETFB, GAN, GLB1, HEXB, IGHMBP2, MEFV, NHLRC1, NPHS1, NTRK1, PMP22, SERPINA1, WNT10A 18 Global Variome, with Curator vacancy