chr21:47410706:G>A Detail (hg19) (COL6A1)

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

Genome

Assembly	Position
hg19	chr21:47,410,706-47,410,706
hg38	chr21:45,990,792-45,990,792 View the variant detail on this assembly version.

HGVS

COL6A1

Type	Transcript	Protein
RefSeq	NM_001848.2:c.1022G>A	NP_001839.2:p.Gly341Asp
Ensemble	ENST00000361866.8:c.1022G>A	ENST00000361866.8:p.Gly341Asp

Summary

MGeND

Clinical significance	Likely pathogenic
Variant entry	1
GWAS entry
Disease area statistics	Show details

Frequency

[No Data.]

Prediction

ClinVar

Clinical Significance	Pathogenic
Review star
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Links

COL6A1

Type	Database	ID	Link
Gene	MIM	120220	OMIM
	HGNC	2211	HGNC
	Ensembl	ENSG00000142156	Ensembl
	NCBI		NCBI
	Gene Cards		Gene Cards
	OncoKB		OncoKB

Type	Database	ID	Link
Variant	TogoVar
	COSMIC	COSM4392266	COSMIC
	MONDO

Disease area statistics

MGeND

Clinical significance	Last evaluated	Condition	Origin	Submission ID	Submitter	Institute	Citation	Comment	Image
Likely pathogenic		ullrich congenital muscular dystrophy	germline	MGS000074 (TMGS000150)	Kenjiro Kosaki Nishino Ichizo	Keio University National Center of Neurology and Psychiatry

ClinVar

Clinical significance	Last evaluated	Review status	Condition	Origin	Links
Pathogenic	2023-02-18	criteria provided, single submitter	Bethlem myopathy 1A	germline	Detail
Pathogenic	2022-07-01	criteria provided, single submitter	not provided	germline	Detail

CIViC

[No Data.]

DisGeNET

Score	Disease name	Description	Source	Pubmed	Links
0.564	Bethlem myopathy	NA	CLINVAR		Detail

Annotation

Annotations

Descrption	Source	Links
NM_001848.3(COL6A1):c.1022G>A (p.Gly341Asp) AND Bethlem myopathy 1A	ClinVar	Detail
NM_001848.3(COL6A1):c.1022G>A (p.Gly341Asp) AND not provided	ClinVar	Detail
NA	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: rs121912935 dbSNP
Genome: hg19
Position: chr21:47,410,706-47,410,706
Variant Type: snv
Reference Allele: G
Alternative Allele: A

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