chr2:219421532:C>T Detail (hg38) (DES)

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Summary
Information
Links
Disease area statistics
MGeND
ClinVar
CIViC
DisGeNET
Annotation
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Information

Genome

Assembly	Position
hg19	chr2:220,286,254-220,286,254 View the variant detail on this assembly version.
hg38	chr2:219,421,532-219,421,532

HGVS

DES

Type	Transcript	Protein
RefSeq	NM_001927.3:c.1216C>T	NP_001918.3:p.Arg406Trp
Ensemble	ENST00000373960.4:c.1216C>T	ENST00000373960.4:p.Arg406Trp

Summary

MGeND

Clinical significance	Pathogenic
Variant entry	1
GWAS entry
Disease area statistics	Show details

Frequency

[No Data.]

Prediction

ClinVar

Clinical Significance	Pathogenic Likely pathogenic
Review star
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Links

DES

Type	Database	ID	Link
Gene	MIM	125660	OMIM
	HGNC	2770	HGNC
	Ensembl	ENSG00000175084	Ensembl
	NCBI		NCBI
	Gene Cards		Gene Cards
	OncoKB		OncoKB

Type	Database	ID	Link
Variant	TogoVar
	COSMIC
	MONDO

Disease area statistics

MGeND

Clinical significance	Last evaluated	Condition	Origin	Submission ID	Submitter	Institute	Citation	Comment	Image
Pathogenic		Myopathy, myofibrillar	germline	MGS000064 (TMGS000131)	Fumihiko Matsuda Ichizo Nishino	The Rare Disease Data Registry of Japan National Center of Neurology and Psychiatry

ClinVar

Clinical significance	Last evaluated	Review status	Condition	Origin	Links
Pathogenic	2023-04-12	criteria provided, multiple submitters, no conflicts	not provided	germline not provided	Detail
Pathogenic Likely pathogenic	2024-05-22	criteria provided, multiple submitters, no conflicts	Desmin-related myofibrillar myopathy	de novo germline unknown	Detail
Pathogenic	2023-03-30	criteria provided, single submitter	arrhythmogenic right ventricular cardiomyopathy	germline	Detail
Pathogenic	2020-09-04	criteria provided, single submitter	cardiomyopathy	germline	Detail

CIViC

[No Data.]

DisGeNET

Score	Disease name	Description	Source	Pubmed	Links
0.564	MYOPATHY, MYOFIBRILLAR, DESMIN-RELATED	NA	CLINVAR		Detail
0.007	myofibrillar myopathy	One sporadic patient had a de novo R406W mutation in the desmin gene, and 1 pati...	BeFree	15198127	Detail
0.005	Disorder of skeletal muscle	A series of West European patients with severe cardiac and skeletal myopathy ass...	BeFree	14991347	Detail
0.001	atrioventricular block	We have previously characterized a de novo desmin R406W mutation in a patient of...	BeFree	14991347	Detail
0.001	Muscle Weakness	We have previously characterized a de novo desmin R406W mutation in a patient of...	BeFree	14991347	Detail
0.001	Paresis	We have previously characterized a de novo desmin R406W mutation in a patient of...	BeFree	14991347	Detail

Annotation

Annotations

Descrption	Source	Links
NM_001927.4(DES):c.1216C>T (p.Arg406Trp) AND not provided	ClinVar	Detail
NM_001927.4(DES):c.1216C>T (p.Arg406Trp) AND Desmin-related myofibrillar myopathy	ClinVar	Detail
NM_001927.4(DES):c.1216C>T (p.Arg406Trp) AND Arrhythmogenic right ventricular cardiomyopathy	ClinVar	Detail
NM_001927.4(DES):c.1216C>T (p.Arg406Trp) AND Cardiomyopathy	ClinVar	Detail
NA	DisGeNET	Detail
One sporadic patient had a de novo R406W mutation in the desmin gene, and 1 patient with autosomal d...	DisGeNET	Detail
A series of West European patients with severe cardiac and skeletal myopathy associated with a de no...	DisGeNET	Detail
We have previously characterized a de novo desmin R406W mutation in a patient of European origin wit...	DisGeNET	Detail
We have previously characterized a de novo desmin R406W mutation in a patient of European origin wit...	DisGeNET	Detail
We have previously characterized a de novo desmin R406W mutation in a patient of European origin wit...	DisGeNET	Detail

Overlapped Transcript Coordinates

Gene	Transcript ID	Exon Number	Chromosome	Start	Stop	Type	Amino Mutation	Transcript Position	Links

Overlapped Transcript

Gene	Transcript ID	Chromosome	Start	Stop	Links

Gene: -
dbSNP: rs121913003 dbSNP
Genome: hg38
Position: chr2:219,421,532-219,421,532
Variant Type: snv
Reference Allele: C
Alternative Allele: T

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