chr21:47408996:A>G Detail (hg19) (COL6A1)

Information

Genome

Assembly Position
hg19 chr21:47,408,996-47,408,996
hg38 chr21:45,989,082-45,989,082 View the variant detail on this assembly version.

HGVS

Type Transcript Protein
RefSeq NM_001848.2:c.805-2A>G
Ensemble ENST00000361866.8:c.805-2A>G
Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics Show details

Frequency

[No Data.]

Prediction

ClinVar

Clinical Significance 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
[No Data.]
MGeND
[No Data.]
ClinVar
Clinical significance Last evaluated Review status Condition Origin Links
Pathogenic 2012-08-28 criteria provided, single submitter not provided germline Detail
Pathogenic 2022-07-26 criteria provided, single submitter Bethlem myopathy 1A germline 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.805-2A>G AND not provided ClinVar Detail
NM_001848.3(COL6A1):c.805-2A>G AND Bethlem myopathy 1A ClinVar Detail
NA DisGeNET Detail
NA DisGeNET Detail

Overlapped Transcript

Gene Transcript ID Chromosome Start Stop Links
Gene
-
dbSNP
rs398123639 dbSNP
Genome
hg19
Position
chr21:47,408,996-47,408,996
Variant Type
snv
Reference Allele
A
Alternative Allele
G
Genome browser