View genomic variant #0000002845

Chromosome 2
Allele Unknown
Affects function (as reported) Effect unknown
Affects function (by curator) Effect unknown
Type subst
DNA change (genomic) (Relative to hg19 / GRCh37) g.211060050T>G
Published as -
GERP 5.770
Segregation -
DB-ID ACADL_000001 See all 2 reported entries
MSCV MSCV_0002845
dbSNP ID rs2286963
Frequency -
Sources ; Ensembl;
Reference 24591516
Variant remarks -
Genetic origin -
Average frequency (large NGS studies) 0.27657 View details
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     
ACADL 00000382 NM_001608.3 0000002845 ?/? - 9/11 c.997A>C p.(Lys333Gln) probably_damaging(0.965) missense_variant - tolerated(0.06)
ACADL 00000381 XM_005246517.1 0000002845 ?/? - 9/11 c.934A>C p.(Lys312Gln) - missense_variant - -
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ClinVar @ MSeqDR

RCVaccession RCV000328841; RCV000115027;
Chromosome 2:211060050..211060050
Allele frequencies from ESP 0.2766
Allele frequencies from ExAC 0.30109
Allele frequencies from TGP 0.2111
ClinVar Allele ID 16659
Disease database name and identifier MedGen:C3887523, OMIM:201475, Orphanet:ORPHA26793, SNOMED CT:237996001, SNOMED CT:237997005|MedGen:CN517202
ClinVar preferred disease name Very long chain acyl-CoA dehydrogenase deficiency|not provided
HGVS variant names NC 000002.11:g.211060050T>G
ClinVar review status criteria provided, single submitter
Clinical Significance Benign
Variant type single nucleotide variant
Sequence Ontology for variant type SO:0001483
Variant clinical sources reported Illumina Clinical Services Laboratory, Illumina:27798|OMIM Allelic Variant:609576.0001|UniProtKB (protein):P28330#VAR 000329
Gene symbol:Gene id. ACADL:33
Molecular consequence SO:0001583|missense variant
Allele origin germline
dbSNP ID 2286963
Variant Flags
:

ClinVar @ MSeqDR as full content XML tree

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
rs22869632211060050211060050T/GG0.2289OMIM phenotype variantsACYL-CoA DEHYDROGENASE, LONG-CHAIN
rs22869632211060050211060050T/GG0.2289OMIM phenotype variantsMetabolite levels
rs22869632211060050211060050T/GG0.2289OMIM phenotype variantsBODY MASS INDEX
rs22869632211060050211060050T/GG0.2289OMIM phenotype variantsHeight
rs22869632211060050211060050T/GG0.2289OMIM phenotype variantsTwo-hour glucose (BMI adjusted)
rs22869632211060050211060050T/GG0.2289OMIM phenotype variantsFasting plasma glucose
rs22869632211060050211060050T/GG0.2289OMIM phenotype variantsFasting insulin
rs22869632211060050211060050T/GG0.2289OMIM phenotype variantsFasting proinsulin
rs22869632211060050211060050T/GG0.2289OMIM phenotype variantsBeta-cell function (HOMA-B)
rs22869632211060050211060050T/GG0.2289OMIM phenotype variantsInsulin resistance (HOMA-IR)
rs22869632211060050211060050T/GG0.2289OMIM phenotype variantsHbA1c