chr21:47410741:G>A Detail (hg19) (COL6A1)

Information

Genome

Assembly Position
hg19 chr21:47,410,741-47,410,741
hg38 chr21:45,990,827-45,990,827 View the variant detail on this assembly version.

HGVS

Type Transcript Protein
RefSeq NM_001848.2:c.1056+1G>A
Ensemble ENST00000361866.8:c.1056+1G>A
Summary

MGeND

Clinical significance Pathogenic
Variant entry 2
GWAS entry
Disease area statistics Show details

Frequency

[No Data.]

Prediction

ClinVar

Clinical Significance Pathogenic Likely pathogenic
Review star
Show details
Links
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
MGeND
Clinical significance Last evaluated Condition Origin Submission ID Submitter Institute Citation Comment Image
Pathogenic bethlem myopathy germline MGS000009
(TMGS000039)
Shoji Tsuji Tokyo University
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 Likely pathogenic 2023-11-13 criteria provided, multiple submitters, no conflicts Bethlem myopathy 1A germline Detail
Pathogenic 2022-05-20 criteria provided, multiple submitters, no conflicts not provided germline Detail
Pathogenic 2017-01-01 criteria provided, single submitter unknown Detail
Pathogenic 2021-07-10 criteria provided, single submitter de novo Detail
CIViC
[No Data.]
DisGeNET
Score Disease name Description Source Pubmed Links
0.564 Bethlem myopathy NA CLINVAR Detail
0.368 Scleroatonic muscular dystrophy NA CLINVAR Detail
Annotation

Annotations

DescrptionSourceLinks
NM_001848.3(COL6A1):c.1056+1G>A AND Bethlem myopathy 1A ClinVar Detail
NM_001848.3(COL6A1):c.1056+1G>A AND not provided ClinVar Detail
NM_001848.3(COL6A1):c.1056+1G>A AND Sensorimotor neuropathy ClinVar Detail
NM_001848.3(COL6A1):c.1056+1G>A AND Abnormality of the musculature ClinVar Detail
NA DisGeNET Detail
NA DisGeNET Detail

Overlapped Transcript

Gene Transcript ID Chromosome Start Stop Links
Gene
-
dbSNP
rs398123631 dbSNP
Genome
hg19
Position
chr21:47,410,741-47,410,741
Variant Type
snv
Reference Allele
G
Alternative Allele
A
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