chr21:45998399:G>T Detail (hg38) (COL6A1)

Information

Genome

Assembly Position
hg19 chr21:47,418,313-47,418,313 View the variant detail on this assembly version.
hg38 chr21:45,998,399-45,998,399

HGVS

Type Transcript Protein
RefSeq NM_001848.2:c.1577G>T NP_001839.2:p.Gly526Val
Ensemble ENST00000361866.8:c.1577G>T ENST00000361866.8:p.Gly526Val
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 1996-09-01 no assertion criteria provided Bethlem myopathy 1A germline Detail
CIViC
[No Data.]
DisGeNET
Score Disease name Description Source Pubmed Links
0.564 Bethlem myopathy NA CLINVAR Detail
Annotation

Annotations

DescrptionSourceLinks
NM_001848.3(COL6A1):c.1577G>T (p.Gly526Val) AND Bethlem myopathy 1A 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
rs121912934 dbSNP
Genome
hg38
Position
chr21:45,998,399-45,998,399
Variant Type
snv
Reference Allele
G
Alternative Allele
T
Genome browser