Variant #0000000006 (NC_000001.10:g.76199277A>C, ACADM(NM_000016.4):c.351A>C)

Individual ID 00000006
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.76199277A>C
DNA change (hg38) g.75733592A>C
Published as -
ISCN -
DB-ID ACADM_000001 See all 9 reported entries
Variant remarks -
Reference -
ClinVar ID -
dbSNP ID -
Origin Germline
Segregation -
Frequency -
Re-site -
VIP -
Methylation -
Average frequency (large NGS studies) 0.0549 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.351A>C r.(=) p.(=)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000000006 DNA SEQ-NG - - ACADM, APTX, ATP7B, GALC, MTHFR, SERPINA1, SGSH, SLC26A2 9 Global Variome, with Curator vacancy