chr21:45989617:G>C Detail (hg38) (COL6A1)

Information

Genome

Assembly Position
hg19 chr21:47,409,531-47,409,531 View the variant detail on this assembly version.
hg38 chr21:45,989,617-45,989,617

HGVS

Type Transcript Protein
RefSeq NM_001848.2:c.868G>C NP_001839.2:p.Gly290Arg
Ensemble ENST00000361866.8:c.868G>C ENST00000361866.8:p.Gly290Arg
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 2021-05-01 criteria provided, single submitter Bethlem myopathy 1A germline Detail
Pathogenic 2009-07-07 no assertion criteria provided ULLRICH CONGENITAL MUSCULAR DYSTROPHY 1A, AUTOSOMAL DOMINANT 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
0.120 Congenital muscular dystrophy (disorder) NA CLINVAR Detail
Annotation

Annotations

DescrptionSourceLinks
NM_001848.3(COL6A1):c.868G>C (p.Gly290Arg) AND Bethlem myopathy 1A ClinVar Detail
NM_001848.3(COL6A1):c.868G>C (p.Gly290Arg) AND ULLRICH CONGENITAL MUSCULAR DYSTROPHY 1A, AUTOSOMAL D... ClinVar Detail
NA DisGeNET Detail
NA DisGeNET 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
rs121912939 dbSNP
Genome
hg38
Position
chr21:45,989,617-45,989,617
Variant Type
snv
Reference Allele
G
Alternative Allele
C
Genome browser