chr21:44289773:C>T Detail (hg38) (AIRE)

Information

Genome

Assembly Position
hg19 chr21:45,709,656-45,709,656 View the variant detail on this assembly version.
hg38 chr21:44,289,773-44,289,773

HGVS

Type Transcript Protein
RefSeq NM_000383.3:c.769C>T NP_000374.1:p.Arg257Ter
Ensemble ENST00000291582.6:c.769C>T ENST00000291582.6:p.Arg257Ter
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 Pathogenic
Review star
Show details
Links
Type Database ID Link
Gene MIM 607358 OMIM
HGNC 360 HGNC
Ensembl ENSG00000160224 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
Pathogenic 2024-01-31 criteria provided, multiple submitters, no conflicts Polyglandular autoimmune syndrome, type 1 germline maternal unknown Detail
Pathogenic 2024-04-01 criteria provided, multiple submitters, no conflicts not provided germline Detail
Pathogenic 2023-06-15 criteria provided, single submitter AIRE-related disorder germline Detail
CIViC
[No Data.]
DisGeNET
Score Disease name Description Source Pubmed Links
0.128 candidiasis The only association between the phenotype and the AIRE genotype was the higher ... BeFree 12050215 Detail
0.005 Diabetes Mellitus, Insulin-Dependent Heterozygous mutations of AIRE were identified in 3 patients: a patient with PBC... BeFree 11343230 Detail
0.335 Polyglandular Type I Autoimmune Syndrome NA CLINVAR Detail
<0.001 Hepatitis, Autoimmune Heterozygous mutations of AIRE were identified in 3 patients: a patient with PBC... BeFree 11343230 Detail
<0.001 Primary biliary cirrhosis Heterozygous mutations of AIRE were identified in 3 patients: a patient with PBC... BeFree 11343230 Detail
<0.001 Gastritis, Atrophic Heterozygous mutations of AIRE were identified in 3 patients: a patient with PBC... BeFree 11343230 Detail
<0.001 Gastritis, Atrophic Heterozygous mutations of AIRE were identified in 3 patients: a patient with PBC... BeFree 11343230 Detail
Annotation

Annotations

DescrptionSourceLinks
NM_000383.4(AIRE):c.769C>T (p.Arg257Ter) AND Polyglandular autoimmune syndrome, type 1 ClinVar Detail
NM_000383.4(AIRE):c.769C>T (p.Arg257Ter) AND not provided ClinVar Detail
NM_000383.4(AIRE):c.769C>T (p.Arg257Ter) AND AIRE-related disorder ClinVar Detail
The only association between the phenotype and the AIRE genotype was the higher prevalence of candid... DisGeNET Detail
Heterozygous mutations of AIRE were identified in 3 patients: a patient with PBC and a patient with ... DisGeNET Detail
NA DisGeNET Detail
Heterozygous mutations of AIRE were identified in 3 patients: a patient with PBC and a patient with ... DisGeNET Detail
Heterozygous mutations of AIRE were identified in 3 patients: a patient with PBC and a patient with ... DisGeNET Detail
Heterozygous mutations of AIRE were identified in 3 patients: a patient with PBC and a patient with ... DisGeNET Detail
Heterozygous mutations of AIRE were identified in 3 patients: a patient with PBC and a patient with ... 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
rs121434254 dbSNP
Genome
hg38
Position
chr21:44,289,773-44,289,773
Variant Type
snv
Reference Allele
C
Alternative Allele
T
East Asian Chromosome Counts (ExAC)
8542
East Asian Allele Counts (ExAC)
1
East Asian Heterozygous Counts (ExAC)
1
East Asian Homozygous Counts (ExAC)
0
East Asian Allele Frequency (ExAC)
1.1706860220088972E-4
Chromosome Counts in All Race (ExAC)
117278
Allele Counts in All Race (ExAC)
83
Heterozygous Counts in All Race (ExAC)
83
Homozygous Counts in All Race (ExAC)
0
Allele Frequency in All Race (ExAC)
7.07720118010198E-4
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