chr21:44291182:CTGTCCCCTCCGC> Detail (hg38) (AIRE)

Information

Genome

Assembly Position
hg19 chr21:45,711,065-45,711,077 
hg38 chr21:44,291,182-44,291,194

HGVS

Type Transcript Protein
RefSeq NM_000383.3:c.967_979delCTGTCCCCTCCGC NP_000374.1:p.Leu323SerfsTer51
Ensemble ENST00000291582.6:c.967_979delCTGTCCCCTCCGC ENST00000291582.6:p.Leu323SerfsTer51
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 Likely 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 tgv410791129 TogoVar
COSMIC
MONDO
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
Clinical significance Last evaluated Review status Condition Origin Links
Pathogenic 2009-11-01 no assertion criteria provided Autoimmune polyglandular syndrome type 1, with reversible metaphyseal dysplasia germline Detail
Pathogenic Likely pathogenic 2024-01-31 criteria provided, multiple submitters, no conflicts Polyglandular autoimmune syndrome, type 1 germline not provided paternal unknown Detail
Pathogenic 2024-03-01 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
0.335 Polyglandular Type I Autoimmune Syndrome NA CLINVAR Detail
0.120 AUTOIMMUNE POLYENDOCRINOPATHY SYNDROME, TYPE I, WITH REVERSIBLE METAPHYSEAL DYSPLASIA NA CLINVAR Detail
Annotation

Annotations

DescrptionSourceLinks
NM_000383.4(AIRE):c.967_979del (p.Leu323fs) AND Autoimmune polyglandular syndrome type 1, with rever... ClinVar Detail
NM_000383.4(AIRE):c.967_979del (p.Leu323fs) AND Polyglandular autoimmune syndrome, type 1 ClinVar Detail
NM_000383.4(AIRE):c.967_979del (p.Leu323fs) AND not provided ClinVar Detail
NM_000383.4(AIRE):c.967_979del (p.Leu323fs) AND AIRE-related disorder ClinVar Detail
NA DisGeNET Detail
NA 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
rs386833675 dbSNP
Genome
hg38
Position
chr21:44,291,182-44,291,194
Variant Type
snv
Reference Allele
CTGTCCCCTCCGC
Alternative Allele
-
East Asian Chromosome Counts (ExAC)
8484
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)
116780
Allele Counts in All Race (ExAC)
59
Heterozygous Counts in All Race (ExAC)
59
Homozygous Counts in All Race (ExAC)
0
Allele Frequency in All Race (ExAC)
5.052234971741736E-4
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