View genomic variant #0000015240

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.

Position: Position of variant in coding DNA sequence; note that coding DNA position can also be derived from the variant description.

RNA change: Description of variant at RNA level (following HGVS recommendations).

• r.123c>u
• r.? = unknown
• r.(?) = RNA not analysed but probably transcribed copy of DNA variant
• r.spl? = RNA not analysed but variant probably affects splicing
• r.(spl?) = RNA not analysed but variant may affect splicing
• r.0? = change expected to abolish transcription

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)	Position	RNA change	Protein	PolyPhen	GVS function	Splice distance	SIFT
MFN2	00000005	NM_001127660.1	0000015240	./.	-	-	c.280C>T	-	r.(?)	p.(Arg94Trp)	-	-	-	-
MFN2	00000004	NM_014874.3	0000015240	./.	-	-	c.280C>T	-	r.(?)	p.(Arg94Trp)	-	-	-	-

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ClinVar @ MSeqDR as full content XML tree

ClinVar @ MSeqDR
RCVaccession	RCV000002364; RCV000190245; RCV000200468; RCV000199279; RCV000415132; RCV001173686; RCV003162206;
Chromosome	1:12052716..12052716
ClinVar Allele ID	17315
Disease database name and identifier	MeSH:D030342, MedGen:C0950123|MONDO:MONDO:0015626, MedGen:C0007959, OMIM:PS118220, Orphanet:166|MONDO:MONDO:0018993, MedGen:C0270914, Orphanet:64746|MedGen:CN517202|MONDO:MONDO:0019551, MedGen:C0393807, Orphanet:90120|MONDO:MONDO:0012231, MedGen:C4721887, OMIM:609260, Orphanet:99947|Human Phenotype Ontology:HP:0000252, Human Phenotype Ontology:HP:0001366, Human Phenotype Ontology:HP:0005485, Human Phenotype Ontology:HP:0005489, Human Phenotype Ontology:HP:0005497, MONDO:MONDO:0001149, MedGen:C4551563|Human Phenotype Ontology:HP:0000164, Human Phenotype Ontology:HP:0001567, Human Phenotype Ontology:HP:0006296, Human Phenotype Ontology:HP:0006348, MedGen:C0262444|Human Phenotype Ontology:HP:0000682, Human Phenotype Ontology:HP:0006322, MedGen:C4021800|Human Phenotype Ontology:HP:0007467, Human Phenotype Ontology:HP:0007496, Human Phenotype Ontology:HP:0008066, Human Phenotype Ontology:HP:0200038, MedGen:C2132198|Human Phenotype Ontology:HP:0001823, Human Phenotype Ontology:HP:0001826, Human Phenotype Ontology:HP:0004325, MedGen:C5574742|Human Phenotype Ontology:HP:0004552, MedGen:C3806301|Human Phenotype Ontology:HP:0002460, Human Phenotype Ontology:HP:0002598, Human Phenotype Ontology:HP:0002935, Human Phenotype Ontology:HP:0003497, Human Phenotype Ontology:HP:0006940, Human Phenotype Ontology:HP:0009008, MedGen:C0427065|Human Phenotype Ontology:HP:0008382, Human Phenotype Ontology:HP:0008397, Human Phenotype Ontology:HP:0008404, Human Phenotype Ontology:HP:0008408, MedGen:C0221260|Human Phenotype Ontology:HP:0002177, Human Phenotype Ontology:HP:0003457, Human Phenotype Ontology:HP:0003751, Human Phenotype Ontology:HP:0003753, Human Phenotype Ontology:HP:0100286, MedGen:C0476403|Human Phenotype Ontology:HP:0002293, Human Phenotype Ontology:HP:0200115, MedGen:C0574769|Human Phenotype Ontology:HP:0000953, Human Phenotype Ontology:HP:0007527, MONDO:MONDO:0019289, MedGen:C0162834, Orphanet:79375|Human Phenotype Ontology:HP:0100699, MedGen:C0008767|Human Phenotype Ontology:HP:0001509, Human Phenotype Ontology:HP:0003501, Human Phenotype Ontology:HP:0003507, Human Phenotype Ontology:HP:0003512, Human Phenotype Ontology:HP:0003518, Human Phenotype Ontology:HP:0003519, Human Phenotype Ontology:HP:0004322, Human Phenotype Ontology:HP:0008871, Human Phenotype Ontology:HP:0008882, Human Phenotype Ontology:HP:0008888, Human Phenotype Ontology:HP:0008913, MedGen:C0349588|Human Phenotype Ontology:HP:0001508, Human Phenotype Ontology:HP:0001535, Human Phenotype Ontology:HP:0008853, Human Phenotype Ontology:HP:0008878, Human Phenotype Ontology:HP:0008916, MedGen:C2315100
ClinVar preferred disease name	Inborn genetic diseases|Charcot-Marie-Tooth disease|Charcot-Marie-Tooth disease type 2|not provided|Hereditary motor and sensory neuropathy with optic atrophy|Charcot-Marie-Tooth disease type 2A2|Microcephaly|Abnormality of the dentition|Abnormal dental enamel morphology|Abnormal blistering of the skin|Decreased body weight|Scarring alopecia of scalp|Distal muscle weakness|Nail dystrophy|EMG abnormality|Alopecia of scalp|Hyperpigmentation of the skin|Scarring|Short stature|Failure to thrive
HGVS variant names	NC 000001.10:g.12052716C>T
ClinVar review status	criteria provided, multiple submitters, no conflicts
Clinical Significance	Pathogenic
Variant type	single nucleotide variant
Sequence Ontology for variant type	SO:0001483
Variant clinical sources reported	ClinGen:CA204307|OMIM:608507.0009|UniProtKB:O95140#VAR 029876
Gene symbol:Gene id.	MFN2:9927
Molecular consequence	SO:0001583|missense variant
Allele origin
dbSNP ID	119103263
Variant Flags	:

ClinVar @ MSeqDR as full content XML tree

ClinVar @ MSeqDR
RCVaccession	RCV001243528;
Chromosome	1:12052717..12052719
ClinVar Allele ID	952039
Disease database name and identifier	MONDO:MONDO:0018993, MedGen:C0270914, Orphanet:64746
ClinVar preferred disease name	Charcot-Marie-Tooth disease type 2
HGVS variant names	NC 000001.10:g.12052719 12052721del
ClinVar review status	criteria provided, single submitter
Clinical Significance	Uncertain significance
Variant type	Deletion
Sequence Ontology for variant type	SO:0000159
Gene symbol:Gene id.	MFN2:9927
Molecular consequence	SO:0001822|inframe deletion
Allele origin	germline
dbSNP ID	1638740322
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