View genomic variant #0000003622

Variant on transcripts

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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

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

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Gene	Transcript ID	Transcript	Variant ID	Affects function	Location	Exon	DNA change (cDNA)	Protein	PolyPhen	GVS function	Splice distance	SIFT
CDKL5	00000603	NM_001037343.1	0000003622	+?/+?	-	9/22	c.533G>A	p.(Arg178Gln)	possibly_damaging(0.857)	missense_variant	-	deleterious(0)
CDKL5	00000602	NM_003159.2	0000003622	+?/+?	-	9/22	c.533G>A	p.(Arg178Gln)	possibly_damaging(0.857)	missense_variant	-	deleterious(0)

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ClinVar @ MSeqDR as full content XML tree

ClinVar @ MSeqDR
RCVaccession	RCV000012262; RCV001035195;
Chromosome	X:18602452..18602452
ClinVar Allele ID	33489
Disease database name and identifier	MedGen:CN128785|MONDO:MONDO:0010396, MedGen:C4750718, OMIM:300672, Orphanet:1934, Orphanet:3451, Orphanet:505652
ClinVar preferred disease name	Angelman syndrome-like|Developmental and epileptic encephalopathy, 2
HGVS variant names	NC 000023.10:g.18602452G>C
ClinVar review status	criteria provided, single submitter
Clinical Significance	Pathogenic
Variant type	single nucleotide variant
Sequence Ontology for variant type	SO:0001483
Variant clinical sources reported	ClinGen:CA121529|OMIM:300203.0014|RettBASE (CDKL5):64|UniProtKB:O76039#VAR 058026
Gene symbol:Gene id.	CDKL5:6792
Molecular consequence	SO:0001583|missense variant
Allele origin
dbSNP ID	267606715
Variant Flags	:

ClinVar @ MSeqDR as full content XML tree

ClinVar @ MSeqDR
RCVaccession	RCV003085978;
Chromosome	X:18602452..18602452
ClinVar Allele ID	1890561
Disease database name and identifier	MONDO:MONDO:0010396, MedGen:C4750718, OMIM:300672, Orphanet:1934, Orphanet:3451, Orphanet:505652|MedGen:CN128785
ClinVar preferred disease name	Developmental and epileptic encephalopathy, 2|Angelman syndrome-like
HGVS variant names	NC 000023.10:g.18602452G>T
ClinVar review status	criteria provided, single submitter
Clinical Significance	Pathogenic
Variant type	single nucleotide variant
Sequence Ontology for variant type	SO:0001483
Gene symbol:Gene id.	CDKL5:6792
Molecular consequence	SO:0001583|missense variant
Allele origin	germline
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