Genomic variant #0000000055

Chromosome 1
Allele Unknown
Affects function (reported) Affects function
Affects function (concluded) Affects function
Type del
DNA change (genomic) (Relative to hg19 / GRCh37) g.76226963_76226966del
Published as -
GERP -
Segregation -
DB-ID ACADM_000010
dbSNP ID rs387906297
Frequency -
Sources ; clinvar;
Reference 1729890;1356169;23757202
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     
ACADM NM_000016.4 +/+ - - c.1102_1105del p.(Ala369Leufs*18) - - - -
ACADM NM_001127328.1 +/+ - - c.1114_1117del p.(Ala373Leufs*18) - - - -


MSeqDR View Variant at Gbrowse

Mitomap Mitochondrial Variant Phenotype Information:

None

Ensembl Variant Phenotype Information:

variation_namechromseq_region_startseq_region_endallele_stringminor_alleleminor_allele_freqvariation_setPhenotype_description
CD92079717622696376226963HGMD_MUTATIONHGMD-PUBLIC variantsAnnotated by HGMD but no phenotype description is publicly available