chr7:94413927:C>T Detail (hg38) (COL1A2)

Information

Genome

Assembly Position
hg19 chr7:94,043,239-94,043,239 View the variant detail on this assembly version.
hg38 chr7:94,413,927-94,413,927

HGVS

Type Transcript Protein
RefSeq NM_000089.3:c.1645C>T NP_000080.2:p.Pro549Ser
Ensemble ENST00000297268.11:c.1645C>T ENST00000297268.11:p.Pro549Ser
Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics Show details

Frequency

JP HGVD:0.093
ToMMo:[No Data.]
NCBN:[No Data.]
NCBN(Hondo):[No Data.]
NCBN(Ryukyu):[No Data.]
East asia ExAC:<0.001

Prediction

ClinVar

Clinical Significance Uncertain significance
Review star
Show details
Links
Type Database ID Link
Gene MIM 120160 OMIM
HGNC 2198 HGNC
Ensembl ENSG00000164692 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
Uncertain significance 2024-01-24 criteria provided, single submitter Ehlers-Danlos syndrome, classic type, 1,Osteogenesis imperfecta type I germline Detail
Uncertain significance 2024-01-24 criteria provided, single submitter Ehlers-Danlos syndrome, classic type, 1,Osteogenesis imperfecta type I germline Detail
Uncertain significance 2023-05-15 criteria provided, single submitter not provided germline Detail
CIViC
[No Data.]
DisGeNET
Score Disease name Description Source Pubmed Links
0.014 intracranial aneurysm A coding polymorphism (rs42524) in COL1A2 has previously been associated with in... BeFree 19426706 Detail
0.014 intracranial aneurysm In this study, we investigated the association of rs42524 in the alpha-2 type I ... BeFree 22815632 Detail
0.014 intracranial aneurysm [Polymorphism rs42524 of COL1A2 and sporadic intracranial aneurysms in the Chine... GAD 19035720 Detail
0.014 intracranial aneurysm Polymorphism rs42524 of COL1A2 and sporadic intracranial aneurysms in the Chines... BeFree 19035720 Detail
Annotation

Annotations

DescrptionSourceLinks
NM_000089.4(COL1A2):c.1645C>T (p.Pro549Ser) AND multiple conditions ClinVar Detail
NM_000089.4(COL1A2):c.1645C>T (p.Pro549Ser) AND multiple conditions ClinVar Detail
NM_000089.4(COL1A2):c.1645C>T (p.Pro549Ser) AND not provided ClinVar Detail
A coding polymorphism (rs42524) in COL1A2 has previously been associated with intracranial aneurysms... DisGeNET Detail
In this study, we investigated the association of rs42524 in the alpha-2 type I collagen (COL1A2) ge... DisGeNET Detail
[Polymorphism rs42524 of COL1A2 and sporadic intracranial aneurysms in the Chinese population.] DisGeNET Detail
Polymorphism rs42524 of COL1A2 and sporadic intracranial aneurysms in the Chinese population. 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
rs42524 dbSNP
Genome
hg38
Position
chr7:94,413,927-94,413,927
Variant Type
snv
Reference Allele
C
Alternative Allele
T
Filtering Status (HGVD)
PASS
# of samples (HGVD)
1192
Mean of sample read depth (HGVD)
73.64
Standard deviation of sample read depth (HGVD)
31.52
Number of reference allele (HGVD)
68
Number of alternative allele (HGVD)
7
Allele Frequency (HGVD)
0.09333333333333334
Gene Symbol (HGVD)
COL1A2
Homozygous Counts in All Race (ExAC)
0
East Asian Chromosome Counts (ExAC)
8654
East Asian Allele Counts (ExAC)
0
East Asian Heterozygous Counts (ExAC)
0
East Asian Homozygous Counts (ExAC)
0
East Asian Allele Frequency (ExAC)
0.0
Chromosome Counts in All Race (ExAC)
121334
Allele Counts in All Race (ExAC)
1
Heterozygous Counts in All Race (ExAC)
0
Allele Frequency in All Race (ExAC)
8.241712957621112E-6
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