chr11:34461361:C>T Detail (hg38) (CAT)

Information

Genome

Assembly Position
hg19 chr11:34,482,908-34,482,908 View the variant detail on this assembly version.
hg38 chr11:34,461,361-34,461,361

HGVS

Type Transcript Protein
RefSeq NM_001752.3:c.1167C>T NP_001743.1:p.Asp389=
Ensemble ENST00000241052.5:c.1167C>T ENST00000241052.5:p.Asp389=
Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics Show details

Frequency

JP HGVD:0.441
ToMMo:0.445
NCBN:[No Data.]
NCBN(Hondo):[No Data.]
NCBN(Ryukyu):[No Data.]
East asia ExAC:0.462

Prediction

ClinVar

Clinical Significance Benign
Review star
Show details
Links
Type Database ID Link
Gene MIM 115500 OMIM
HGNC 1516 HGNC
Ensembl ENSG00000121691 Ensembl
NCBI NCBI
Gene Cards Gene Cards
OncoKB OncoKB
Type Database ID Link
Variant TogoVar tgv42158059 TogoVar
COSMIC
MONDO
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
Clinical significance Last evaluated Review status Condition Origin Links
Benign 2015-10-19 no assertion criteria provided not provided unknown Detail
CIViC
[No Data.]
DisGeNET
Score Disease name Description Source Pubmed Links
0.131 diabetes mellitus Effects of rs769217 and rs1001179 polymorphisms of catalase gene on blood catala... BeFree 22712453 Detail
0.131 Diabetes Mellitus, Non-Insulin-Dependent Genetic variants C1167T of CAT gene and +35 A/C of SOD1 gene has no role in insu... BeFree 22970972 Detail
0.001 beta thalassemia A simple method for examination of polymorphisms of catalase exon 9: rs769217 in... BeFree 22286031 Detail
<0.001 liver cirrhosis Our findings suggest that the CAT rs769217 T allele is associated with increased... BeFree 25837767 Detail
Annotation

Annotations

DescrptionSourceLinks
NM_001752.4(CAT):c.1167C>T (p.Asp389=) AND not provided ClinVar Detail
Effects of rs769217 and rs1001179 polymorphisms of catalase gene on blood catalase, carbohydrate and... DisGeNET Detail
Genetic variants C1167T of CAT gene and +35 A/C of SOD1 gene has no role in insulin resistance in T2... DisGeNET Detail
A simple method for examination of polymorphisms of catalase exon 9: rs769217 in Hungarian microcyti... DisGeNET Detail
Our findings suggest that the CAT rs769217 T allele is associated with increased risk of CHB, HBV-LC... 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
rs769217 dbSNP
Genome
hg38
Position
chr11:34,461,361-34,461,361
Variant Type
snv
Reference Allele
C
Alternative Allele
T
Filtering Status (HGVD)
PASS
# of samples (HGVD)
1210
Mean of sample read depth (HGVD)
94.96
Standard deviation of sample read depth (HGVD)
44.28
Number of reference allele (HGVD)
1353
Number of alternative allele (HGVD)
1067
Allele Frequency (HGVD)
0.4409090909090909
Gene Symbol (HGVD)
CAT
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))
rs769217
Allele frequency, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
0.4446
Allele count in genotypes, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
7451
Total number of alleles in called genotypes (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
16758
East Asian Chromosome Counts (ExAC)
8640
East Asian Allele Counts (ExAC)
3989
East Asian Heterozygous Counts (ExAC)
2145
East Asian Homozygous Counts (ExAC)
922
East Asian Allele Frequency (ExAC)
0.4616898148148148
Chromosome Counts in All Race (ExAC)
121390
Allele Counts in All Race (ExAC)
29343
Heterozygous Counts in All Race (ExAC)
21593
Homozygous Counts in All Race (ExAC)
3875
Allele Frequency in All Race (ExAC)
0.24172501853529946
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