chr9:134842570:C>T Detail (hg38) (COL5A1, LOC101448202)

Information

Genome

Assembly Position
hg19 chr9:137,734,416-137,734,416 View the variant detail on this assembly version.
hg38 chr9:134,842,570-134,842,570

HGVS

Type Transcript Protein
RefSeq NM_000093.4:c.*267C>T
Ensemble ENST00000371817.8:c.*267C>T
ENST00000371820.4:c.*267C>T
Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics Show details

Frequency

JP HGVD:[No Data.]
ToMMo:0.166
NCBN:[No Data.]
NCBN(Hondo):[No Data.]
NCBN(Ryukyu):[No Data.]
East asia ExAC:[No Data.]

Prediction

ClinVar

Clinical Significance Benign
Review star
Show details
Links
Type Database ID Link
Gene MIM 120215 OMIM
HGNC 2209 HGNC
Ensembl ENSG00000130635 Ensembl
NCBI NCBI
Gene Cards Gene Cards
OncoKB OncoKB
Type Database ID Link
Variant TogoVar tgv37926858 TogoVar
COSMIC
MONDO
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
Clinical significance Last evaluated Review status Condition Origin Links
Benign 2016-06-14 criteria provided, single submitter Ehlers-Danlos syndrome type 7A germline Detail
Benign 2018-06-18 criteria provided, single submitter not provided germline Detail
Benign 2022-03-15 criteria provided, single submitter Ehlers-Danlos syndrome, classic type, 1 germline Detail
Benign 2022-03-15 criteria provided, single submitter Fibromuscular dysplasia, multifocal germline Detail
CIViC
[No Data.]
DisGeNET
Score Disease name Description Source Pubmed Links
0.005 Disorder of Achilles tendon [Variants within the MMP3 gene are associated with Achilles tendinopathy: possib... GAD 19042922 Detail
0.003 Tendinopathy Furthermore, the MMP3 gene variant rs679620 and the COL5A1 marker rs12722 intera... BeFree 19042922 Detail
<0.001 Tendinopathy Furthermore, the MMP3 gene variant rs679620 and the COL5A1 marker rs12722 intera... BeFree 19042922 Detail
<0.001 carpal tunnel syndrome One hundred and three self-reported coloured participants, with a history of car... BeFree 24966028 Detail
Annotation

Annotations

DescrptionSourceLinks
NM_000093.5(COL5A1):c.*267C>T AND Ehlers-Danlos syndrome type 7A ClinVar Detail
NM_000093.5(COL5A1):c.*267C>T AND not provided ClinVar Detail
NM_000093.5(COL5A1):c.*267C>T AND Ehlers-Danlos syndrome, classic type, 1 ClinVar Detail
NM_000093.5(COL5A1):c.*267C>T AND Fibromuscular dysplasia, multifocal ClinVar Detail
[Variants within the MMP3 gene are associated with Achilles tendinopathy: possible interaction with ... DisGeNET Detail
Furthermore, the MMP3 gene variant rs679620 and the COL5A1 marker rs12722 interact to modify the ris... DisGeNET Detail
Furthermore, the MMP3 gene variant rs679620 and the COL5A1 marker rs12722 interact to modify the ris... DisGeNET Detail
One hundred and three self-reported coloured participants, with a history of carpal tunnel release s... 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
rs12722 dbSNP
Genome
hg38
Position
chr9:134,842,570-134,842,570
Variant Type
snv
Reference Allele
C
Alternative Allele
T
ToMMo VCF FILTER column value (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
PASS
Total VCF ID column value (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
rs12722
Allele frequency, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
0.1659
Allele count in genotypes, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
2781
Total number of alleles in called genotypes (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
16760
Genome browser