chr13:110818598:T>A Detail (hg19) (COL4A1)

Information

Genome

Assembly Position
hg19 chr13:110,818,598-110,818,598
hg38 chr13:110,166,251-110,166,251 View the variant detail on this assembly version.

HGVS

Type Transcript Protein
RefSeq NM_001845.5:c.4002A>T NP_001836.3:p.Gln1334His
Ensemble ENST00000375820.10:c.4002A>T ENST00000375820.10:p.Gln1334His
ENST00000650424.2:c.4002A>T ENST00000650424.2:p.Gln1334His
Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics Show details

Frequency

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

Prediction

ClinVar

Clinical Significance Benign
Review star
Show details
Links
Type Database ID Link
Gene MIM 120130 OMIM
HGNC 2202 HGNC
Ensembl ENSG00000187498 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
Benign 2022-03-18 criteria provided, single submitter not provided germline Detail
CIViC
[No Data.]
DisGeNET
Score Disease name Description Source Pubmed Links
<0.001 Hypercholesterolemia Further examination by multivariable logistic regression analysis with adjustmen... BeFree 18077766 Detail
0.002 Mental disorders [A genome-wide association study identified a SNP in the COL4A1 gene that was si... GAD 20031579 Detail
<0.001 Hypercholesterolemia Further examination by multivariable logistic regression analysis with adjustmen... BeFree 18077766 Detail
Annotation

Annotations

DescrptionSourceLinks
NM_001845.6(COL4A1):c.4002A>T (p.Gln1334His) AND not provided ClinVar Detail
Further examination by multivariable logistic regression analysis with adjustment for age, sex, body... DisGeNET Detail
[A genome-wide association study identified a SNP in the COL4A1 gene that was significantly associat... DisGeNET Detail
Further examination by multivariable logistic regression analysis with adjustment for age, sex, body... 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
-
Genome
hg19
Position
chr13:110,818,598-110,818,598
Variant Type
snv
Reference Allele
T
Alternative Allele
A
East Asian Chromosome Counts (ExAC)
8648
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)
121398
Allele Counts in All Race (ExAC)
3
Heterozygous Counts in All Race (ExAC)
2
Homozygous Counts in All Race (ExAC)
0
Allele Frequency in All Race (ExAC)
2.4712103988533584E-5
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