View genomic variant #0000000055

Chromosome 1
Allele Unknown
Affects function (as reported) Affects function
Affects function (by curator) Affects function
Type del
DNA change (genomic) (Relative to hg19 / GRCh37) g.76226963_76226966del
Published as -
GERP -
Segregation -
DB-ID ACADM_000010
MSCV MSCV_0000055
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

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

Gene     

Transcript ID     

AscendingTranscript     

Variant ID     

Affects function     

Location     

Exon     

DNA change (cDNA)     

Protein     

PolyPhen     

GVS function     

Splice distance     

SIFT     
ACADM 00000384 NM_000016.4 0000000055 +/+ - - c.1102_1105del p.(Ala369Leufs*18) - - - -
ACADM 00000383 NM_001127328.1 0000000055 +/+ - - c.1114_1117del p.(Ala373Leufs*18) - - - -
Legend  


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