View genomic variant #0000000489

Chromosome 12
Allele Unknown
Affects function (reported) Effect unknown
Affects function (concluded) Effect unknown
Type del
DNA change (genomic) (Relative to hg19 / GRCh37) g.121174885_121174887del
Published as -
GERP -
Segregation -
DB-ID ACADS_000012
dbSNP ID rs387906308
Frequency -
Sources ;
Reference 11134486
Variant remarks -
Genetic origin -
Average frequency (large NGS studies) Variant not found in online data sets
Owner LOVD




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Location     

Exon     

DNA change (cDNA)     

Protein     

PolyPhen     

GVS function     

Splice distance     

SIFT     
ACADS NM_000017.2 ?/? - - c.307_309del p.(Glu104del) - - - -
ACADS XM_005253878.1 ?/? - - c.307_309del p.(Glu104del) - - - -


MSeqDR View Variant at Gbrowse

Mitomap Mitochondrial Variant Phenotype Information:

None

Ensembl Variant Phenotype Information:

None