chr21:47409014:C>T 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	chr21:47,409,014-47,409,014
hg38	chr21:45,989,100-45,989,100 View the variant detail on this assembly version.

HGVS

COL6A1

Type	Transcript	Protein
RefSeq	NM_001848.2:c.821C>T	NP_001839.2:p.Pro274Leu
Ensemble	ENST00000361866.8:c.821C>T	ENST00000361866.8:p.Pro274Leu

Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics	Show details

Frequency

JP	HGVD:[No Data.]
	ToMMo:[No Data.]
	NCBN:[No Data.]
	NCBN(Hondo):[No Data.]
	NCBN(Ryukyu):[No Data.]
East asia	ExAC:<0.001

Prediction

ClinVar

Clinical Significance	Conflicting classifications of pathogenicity
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
	MONDO

Disease area statistics

[No Data.]

MGeND

[No Data.]

ClinVar

Clinical significance	Last evaluated	Review status	Condition	Origin	Links
Likely benign	2024-01-29	criteria provided, single submitter	Bethlem myopathy 1A	germline unknown	Detail
Uncertain significance	2017-12-28	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.821C>T (p.Pro274Leu) AND Bethlem myopathy 1A	ClinVar	Detail
NM_001848.3(COL6A1):c.821C>T (p.Pro274Leu) 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: rs201093313 dbSNP
Genome: hg19
Position: chr21:47,409,014-47,409,014
Variant Type: snv
Reference Allele: C
Alternative Allele: T
East Asian Chromosome Counts (ExAC): 8624
East Asian Allele Counts (ExAC): 0
East Asian Heterozygous Counts (ExAC): 0
East Asian Homozygous Counts (ExAC): 0
East Asian Allele Frequency (ExAC): 0.0
Chromosome Counts in All Race (ExAC): 118558
Allele Counts in All Race (ExAC): 2
Heterozygous Counts in All Race (ExAC): 2
Homozygous Counts in All Race (ExAC): 0
Allele Frequency in All Race (ExAC): 1.686938038765836E-5

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