chr21:44289793:C> Detail (hg38) (AIRE)

Information

Genome

Assembly Position
hg19 chr21:45,709,676-45,709,676 
hg38 chr21:44,289,793-44,289,793

HGVS

Type Transcript Protein
RefSeq NM_000383.3:c.789delC NP_000374.1:p.Ala264LeufsTer114
Ensemble ENST00000291582.6:c.789delC ENST00000291582.6:p.Ala264LeufsTer114
Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics Show details

Frequency

[No Data.]

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 2003-10-01 no assertion criteria provided Autoimmune polyglandular syndrome type 1, with reversible metaphyseal dysplasia germline Detail
Pathogenic 2023-09-14 criteria provided, multiple submitters, no conflicts Polyglandular autoimmune syndrome, type 1 germline Detail
CIViC
[No Data.]
DisGeNET
Score Disease name Description Source Pubmed Links
0.120 AUTOIMMUNE POLYENDOCRINOPATHY SYNDROME, TYPE I, WITH REVERSIBLE METAPHYSEAL DYSPLASIA NA CLINVAR Detail
Annotation

Annotations

DescrptionSourceLinks
NM_000383.4(AIRE):c.789del (p.Ala264fs) AND Autoimmune polyglandular syndrome type 1, with reversibl... ClinVar Detail
NM_000383.4(AIRE):c.789del (p.Ala264fs) AND Polyglandular autoimmune syndrome, type 1 ClinVar 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
rs387906295 dbSNP
Genome
hg38
Position
chr21:44,289,793-44,289,793
Variant Type
snv
Reference Allele
C
Alternative Allele
-
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