View genomic variant #0000002845

Chromosome 2
Allele Unknown
Affects function (reported) Effect unknown
Affects function (concluded) Effect unknown
Type subst
DNA change (genomic) (Relative to hg19 / GRCh37) g.211060050T>G
Published as -
GERP 5.770
Segregation -
DB-ID ACADL_000001
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


Gene     

AscendingTranscript     

Affects function     

Location     

Exon     

DNA change (cDNA)     

Protein     

PolyPhen     

GVS function     

Splice distance     

SIFT     
ACADL NM_001608.3 ?/? - 9/11 c.997A>C p.(Lys333Gln) probably_damaging(0.965) missense_variant - tolerated(0.06)
ACADL XM_005246517.1 ?/? - 9/11 c.934A>C p.(Lys312Gln) - missense_variant - -


ClinVar @ MSeqDR

0.2766
0.30109
0.2111
16659
MedGen:C3887523,OMIM:201475,Orphanet:ORPHA26793,SNOMED CT:237996001,SNOMED CT:237997005|MedGen:CN517202
Very long chain acyl-CoA dehydrogenase deficiency|not provided
HGVS variant names NC 000002.11:g.211060050T>G
criteria provided, conflicting interpretations
Clinical Significance
single nucleotide variant
SO:0001483
Illumina Clinical Services Laboratory,Illumina:27798,OMIM Allelic Variant:609576.0001,UniProtKB (protein):P28330#VAR 000329
Gene symbol:Gene id. ACADL:33
SO:0001583|missense variant
1
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