chr19:19219115:C>A Detail (hg38) (NCAN)

Information

Genome

Assembly Position
hg19 chr19:19,329,924-19,329,924 View the variant detail on this assembly version.
hg38 chr19:19,219,115-19,219,115

HGVS

Type Transcript Protein
RefSeq NM_004386.2:c.274C>A NP_004377.2:p.Pro92Thr
Ensemble ENST00000252575.11:c.274C>A ENST00000252575.11:p.Pro92Thr
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
Review star [No Data.]
Show details
Links
Type Database ID Link
Gene MIM 600826 OMIM
HGNC 2465 HGNC
Ensembl ENSG00000130287 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
[No Data.]
CIViC
[No Data.]
DisGeNET
Score Disease name Description Source Pubmed Links
<0.001 obesity By studying the genetic variants of obese Taiwanese children, we confirmed that ... BeFree 24477042 Detail
<0.001 Non-alcoholic Fatty Liver Disease By studying the genetic variants of obese Taiwanese children, we confirmed that ... BeFree 24477042 Detail
<0.001 Steatohepatitis We investigated whether ultrasound-measured HS, with and without increased level... BeFree 23416328 Detail
<0.001 Fatty Liver We investigated whether ultrasound-measured HS, with and without increased level... BeFree 23416328 Detail
<0.001 Steatohepatitis We investigated whether ultrasound-measured HS, with and without increased level... BeFree 23416328 Detail
<0.001 Non-alcoholic Fatty Liver Disease By studying the genetic variants of obese Taiwanese children, we confirmed that ... BeFree 24477042 Detail
0.001 Fatty Liver We investigated whether ultrasound-measured HS, with and without increased level... BeFree 23416328 Detail
<0.001 adrenoleukodystrophy The frequency of the NCAN rs2228603 T allele was significantly increased in pati... BeFree 24946282 Detail
<0.001 Liver Cirrhosis, Alcoholic The frequency of the NCAN rs2228603 T allele was significantly increased in pati... BeFree 24946282 Detail
<0.001 Steatohepatitis NCAN rs2228603[T] is a risk factor for liver inflammation and fibrosis, suggesti... BeFree 23594525 Detail
Annotation

Annotations

DescrptionSourceLinks
By studying the genetic variants of obese Taiwanese children, we confirmed that the genetic variants... DisGeNET Detail
By studying the genetic variants of obese Taiwanese children, we confirmed that the genetic variants... DisGeNET Detail
We investigated whether ultrasound-measured HS, with and without increased levels of alanine aminotr... DisGeNET Detail
We investigated whether ultrasound-measured HS, with and without increased levels of alanine aminotr... DisGeNET Detail
We investigated whether ultrasound-measured HS, with and without increased levels of alanine aminotr... DisGeNET Detail
By studying the genetic variants of obese Taiwanese children, we confirmed that the genetic variants... DisGeNET Detail
We investigated whether ultrasound-measured HS, with and without increased levels of alanine aminotr... DisGeNET Detail
The frequency of the NCAN rs2228603 T allele was significantly increased in patients with HCC due to... DisGeNET Detail
The frequency of the NCAN rs2228603 T allele was significantly increased in patients with HCC due to... DisGeNET Detail
NCAN rs2228603[T] is a risk factor for liver inflammation and fibrosis, suggesting that this locus i... 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
hg38
Position
chr19:19,219,115-19,219,115
Variant Type
snv
Reference Allele
C
Alternative Allele
A
East Asian Chromosome Counts (ExAC)
8590
East Asian Allele Counts (ExAC)
1
East Asian Heterozygous Counts (ExAC)
1
East Asian Homozygous Counts (ExAC)
0
East Asian Allele Frequency (ExAC)
1.1641443538998836E-4
Chromosome Counts in All Race (ExAC)
118760
Allele Counts in All Race (ExAC)
1
Heterozygous Counts in All Race (ExAC)
1
Homozygous Counts in All Race (ExAC)
0
Allele Frequency in All Race (ExAC)
8.42034355001684E-6
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