View genomic variant #0000000489

Chromosome 12
Allele Unknown
Affects function (as reported) Effect unknown
Affects function (by curator) Effect unknown
Type del
DNA change (genomic) (Relative to hg19 / GRCh37) g.121174885_121174887del
Published as -
GERP -
Segregation -
DB-ID ACADS_000012
MSCV MSCV_0000489
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

2 entries on 1 page. Showing entries 1 - 2.
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Gene     

Transcript ID     

AscendingTranscript     

Variant ID     

Affects function     

Location     

Exon     

DNA change (cDNA)     

Protein     

PolyPhen     

GVS function     

Splice distance     

SIFT     
ACADS 00000386 NM_000017.2 0000000489 ?/? - - c.307_309del p.(Glu104del) - - - -
ACADS 00000385 XM_005253878.1 0000000489 ?/? - - c.307_309del p.(Glu104del) - - - -
Legend  


MSeqDR View Variant at Gbrowse

Mitomap Mitochondrial Variant Phenotype Information:

None

Ensembl Variant Phenotype Information:

None