View genomic variant #0000005201

Chromosome	17
Allele	Unknown
Affects function (as reported)	Affects function
Affects function (by curator)	Affects function
Type	subst
DNA change (genomic) (Relative to hg19 / GRCh37)	g.7128285C>T
Published as	-
GERP	5.740
Segregation	-
DB-ID	ACADVL_000010 See all 3 reported entries
MSCV	MSCV_0005201
dbSNP ID	rs118204014
Frequency	-
Sources	; ensembl;
Reference	8554073
Variant remarks	-
Genetic origin	-
Variant_disease	-
Average frequency (large NGS studies)	Variant not found in online data sets
Owner	LOVD

Variant on transcripts

Legend

Please note that a short description of a certain column can be displayed when you move your mouse cursor over the column's header and hold it still. Below, a more detailed description is shown per column.

Affects function: The variant's effect on the protein's function, in the format 'R/C' where R is the value reported by the source and C is the value concluded by the curator; '+' indicating the variant affects function, '+?' probably affects function, '+*' affects function, not associated with individual's disease phenotype, '#' affects function, not associated with any known disease phenotype, '-' does not affect function, '-?' probably does not affect function, '?' effect unknown, '.' effect not classified.

Location: Location of variant at DNA level; note that the variant location can also be derived from the variant description.
All options:

5' gene flanking
5' UTR
Exon
Intron
3' UTR
3' gene flanking

Exon: Number of exon/intron containing variant; 2 = exon 2, 12i = intron 12, 2i_7i = exons 3 to 7, 8i_9 = border intron 8/exon 9.

DNA change (cDNA): Description of variant at DNA level, based on a coding DNA reference sequence (following HGVS recommendations); e.g. c.123C>T, c.123_145del, c.123_126dup.

Protein: Description of variant at protein level (following HGVS recommendations).

p.(Arg345Pro) = change predicted from DNA (RNA not analysed)
p.Arg345Pro = change derived from RNA analysis
p.? = unknown effect
p.0? = probably no protein produced

PolyPhen: Effect of variant, predicted by PolyPhen.
All options:

benign = Benign
possiblyDamaging = Possibly damaging
probablyDamaging = Probably damaging
noPrediction = No prediction

GVS function: The functional annotation of this position from the Genome Variation Server.
All options:

intergenic
near-gene-5
utr-5
coding
coding-near-splice
coding-synonymous
coding-synonymous-near-splice
codingComplex
codingComplex-near-splice
frameshift
frameshift-near-splice
missense
missense-near-splice
splice-5
intron
splice-3
stop-gained
stop-gained-near-splice
stop-lost
stop-lost-near-splice
utr-3
near-gene-3

Splice distance: The distance to the nearest splice site.

SIFT: SIFT Annotation

4 entries on 1 page. Showing entries 1 - 4.

Legend

Gene	Transcript ID	Transcript	Variant ID	Affects function	Location	Exon	DNA change (cDNA)	Protein	PolyPhen	GVS function	Splice distance	SIFT
ACADVL	00000390	NM_000018.3	0000005201	./.	-	20/20	c.1837C>T	p.(Arg613Trp)	probably_damaging(0.998)	missense_variant	-	deleterious(0)
ACADVL	00000391	NM_001033859.2	0000005201	./.	-	19/19	c.1771C>T	p.(Arg591Trp)	probably_damaging(1)	missense_variant	-	deleterious(0)
ACADVL	00000388	NM_001270447.1	0000005201	./.	-	21/21	c.1906C>T	p.(Arg636Trp)	probably_damaging(1)	missense_variant	-	deleterious(0)
ACADVL	00000389	NM_001270448.1	0000005201	./.	-	19/19	c.1609C>T	p.(Arg537Trp)	-	missense_variant	-	-

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ClinVar @ MSeqDR
RCVaccession	RCV000001690; RCV000185733;
Chromosome	17:7128285..7128285
Allele frequencies from ExAC	0.00008
ClinVar Allele ID	16662
Disease database name and identifier	MedGen:C3661900\|MONDO:MONDO:0008723, MedGen:C3887523, OMIM:201475, Orphanet:26793
ClinVar preferred disease name	not provided\|Very long chain acyl-CoA dehydrogenase deficiency
HGVS variant names	NC 000017.10:g.7128285C>T
ClinVar review status	reviewed by expert panel
Clinical Significance	Likely pathogenic
Variant type	single nucleotide variant
Sequence Ontology for variant type	SO:0001483
Variant clinical sources reported	ClinGen:CA251903\|OMIM:609575.0003\|UniProtKB:P49748#VAR 000365
Gene symbol:Gene id.	ACADVL:37
Molecular consequence	SO:0001583\|missense variant
Allele origin	germline
dbSNP ID	118204014
Variant Flags	:

ClinVar @ MSeqDR as full content XML tree

ClinVar @ MSeqDR
RCVaccession RCV003465163;
Chromosome 17:7128286..7128286
ClinVar Allele ID 2833853
Disease database name and identifier MONDO:MONDO:0008723, MedGen:C3887523, OMIM:201475, Orphanet:26793
ClinVar preferred disease name Very long chain acyl-CoA dehydrogenase deficiency
HGVS variant names NC 000017.10:g.7128287del
ClinVar review status criteria provided, single submitter
Clinical Significance Likely pathogenic
Variant type Deletion
Sequence Ontology for variant type SO:0000159
Gene symbol:Gene id. ACADVL:37
Molecular consequence SO:0001589|frameshift variant
Allele origin unknown
Variant Flags
:

ClinVar @ MSeqDR as full content XML tree

MSeqDR View Variant at Gbrowse

Mitomap Mitochondrial Variant Phenotype Information:

None

Ensembl Variant Phenotype Information:

None