chr21:45706539:T>A Detail (hg19) (AIRE)

Information

Genome

Assembly Position
hg19 chr21:45,706,539-45,706,539
hg38 chr21:44,286,656-44,286,656 View the variant detail on this assembly version.

HGVS

Type Transcript Protein
RefSeq NM_000383.3:c.232T>A NP_000374.1:p.Trp78Arg
Ensemble ENST00000291582.6:c.232T>A ENST00000291582.6:p.Trp78Arg
Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics Show details

Frequency

[No Data.]

Prediction

ClinVar

Clinical Significance not provided
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
not provided no assertion provided not provided not provided Detail
CIViC
[No Data.]
DisGeNET
Score Disease name Description Source Pubmed Links
0.335 Polyglandular Type I Autoimmune Syndrome NA CLINVAR Detail
0.335 Polyglandular Type I Autoimmune Syndrome Two novel mutations of the AIRE protein affecting its homodimerization propertie... UNIPROT 15712268 Detail
Annotation

Annotations

DescrptionSourceLinks
NM_000383.4(AIRE):c.232T>A (p.Trp78Arg) AND not provided ClinVar Detail
NA DisGeNET Detail
Two novel mutations of the AIRE protein affecting its homodimerization properties. 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
rs179363880 dbSNP
Genome
hg19
Position
chr21:45,706,539-45,706,539
Variant Type
snv
Reference Allele
T
Alternative Allele
A
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