chr2:226797205:C>G Detail (hg38) (IRS1)

Information

Genome

Assembly Position
hg19 chr2:227,661,921-227,661,921 View the variant detail on this assembly version.
hg38 chr2:226,797,205-226,797,205

HGVS

Type Transcript Protein
RefSeq NM_005544.2:c.1534G>C NP_005535.1:p.Ala512Pro
Ensemble ENST00000305123.6:c.1534G>C ENST00000305123.6:p.Ala512Pro
Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics Show details

Frequency

JP HGVD:[No Data.]
ToMMo:<0.001
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 147545 OMIM
HGNC 6125 HGNC
Ensembl ENSG00000169047 Ensembl
NCBI NCBI
Gene Cards Gene Cards
OncoKB OncoKB
Type Database ID Link
Variant TogoVar tgv10735744 TogoVar
COSMIC
MONDO
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
Clinical significance Last evaluated Review status Condition Origin Links
Benign 2014-10-09 criteria provided, single submitter type 2 diabetes mellitus germline Detail
Benign no assertion criteria provided not specified germline Detail
Benign 2019-05-17 criteria provided, single submitter IRS1-related disorder germline Detail
CIViC
[No Data.]
DisGeNET
Score Disease name Description Source Pubmed Links
0.087 Metabolic syndrome X The polymorphisms PstI and MaeIII of INS, NsiI of INSR and Ala513Pro and Gly972A... BeFree 18716398 Detail
0.167 Metabolic syndrome X The polymorphisms PstI and MaeIII of INS, NsiI of INSR and Ala513Pro and Gly972A... BeFree 18716398 Detail
<0.001 Metabolic syndrome X The polymorphisms PstI and MaeIII of INS, NsiI of INSR and Ala513Pro and Gly972A... BeFree 18716398 Detail
0.044 polycystic ovary syndrome Abnormal glucose tolerance and insulin resistance in polycystic ovary syndrome a... BeFree 16603055 Detail
0.627 Diabetes Mellitus, Non-Insulin-Dependent Two mutations of the IRS-1 gene (Gly(972)Arg and Ala(513)Pro) have been describe... BeFree 9162610 Detail
Annotation

Annotations

DescrptionSourceLinks
NM_005544.3(IRS1):c.1534G>C (p.Ala512Pro) AND Type 2 diabetes mellitus ClinVar Detail
NM_005544.3(IRS1):c.1534G>C (p.Ala512Pro) AND not specified ClinVar Detail
NM_005544.3(IRS1):c.1534G>C (p.Ala512Pro) AND IRS1-related disorder ClinVar Detail
The polymorphisms PstI and MaeIII of INS, NsiI of INSR and Ala513Pro and Gly972Arg of IRS1 have been... DisGeNET Detail
The polymorphisms PstI and MaeIII of INS, NsiI of INSR and Ala513Pro and Gly972Arg of IRS1 have been... DisGeNET Detail
The polymorphisms PstI and MaeIII of INS, NsiI of INSR and Ala513Pro and Gly972Arg of IRS1 have been... DisGeNET Detail
Abnormal glucose tolerance and insulin resistance in polycystic ovary syndrome amongst the Taiwanese... DisGeNET Detail
Two mutations of the IRS-1 gene (Gly(972)Arg and Ala(513)Pro) have been described, although their ro... 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
rs1801276 dbSNP
Genome
hg38
Position
chr2:226,797,205-226,797,205
Variant Type
snv
Reference Allele
C
Alternative Allele
G
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))
rs1801276
Allele frequency, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
0.0001
Allele count in genotypes, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
1
Total number of alleles in called genotypes (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
16760
East Asian Chromosome Counts (ExAC)
8626
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)
120558
Allele Counts in All Race (ExAC)
1727
Heterozygous Counts in All Race (ExAC)
1687
Homozygous Counts in All Race (ExAC)
20
Allele Frequency in All Race (ExAC)
0.014325055160171867
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