chr9:137734339:G>A Detail (hg19) (COL5A1, LOC101448202)

Information

Genome

Assembly Position
hg19 chr9:137,734,339-137,734,339
hg38 chr9:134,842,493-134,842,493 View the variant detail on this assembly version.

HGVS

Type Transcript Protein
RefSeq NM_000093.4:c.*190G>A
Ensemble ENST00000371817.8:c.*190G>A
ENST00000371820.4:c.*190G>A
Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics Show details

Frequency

JP HGVD:[No Data.]
ToMMo:0.034
NCBN:[No Data.]
NCBN(Hondo):[No Data.]
NCBN(Ryukyu):[No Data.]
East asia ExAC:[No Data.]

Prediction

ClinVar

Clinical Significance Likely 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 tgv37926854 TogoVar
COSMIC
MONDO
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
Clinical significance Last evaluated Review status Condition Origin Links
Likely benign 2016-06-14 criteria provided, single submitter Ehlers-Danlos syndrome type 7A germline Detail
CIViC
[No Data.]
DisGeNET
Score Disease name Description Source Pubmed Links
<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.*190G>A AND Ehlers-Danlos syndrome type 7A ClinVar 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
rs55748801 dbSNP
Genome
hg19
Position
chr9:137,734,339-137,734,339
Variant Type
snv
Reference Allele
G
Alternative Allele
A
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))
rs55748801
Allele frequency, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
0.0341
Allele count in genotypes, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
571
Total number of alleles in called genotypes (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
16760
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