ClinVar

NM_000383.4(AIRE):c.1066C>T (p.Arg356Trp)

Gene:

AIRE:autoimmune regulator [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

21q22.3

Genomic location:

• Chr21: 44292372 (on Assembly GRCh38)
• Chr21: 45712255 (on Assembly GRCh37)

Preferred name:

NM_000383.4(AIRE):c.1066C>T (p.Arg356Trp)

HGVS:

• NC_000021.9:g.44292372C>T
• NG_009556.1:g.11493C>T
• NM_000383.4:c.1066C>TMANE SELECT
• NP_000374.1:p.Arg356Trp
• LRG_18:g.11493C>T
• NC_000021.8:g.45712255C>T
• NM_000383.3:c.1066C>T

This HGVS expression did not pass validation

Protein change:

R356W

Links:

dbSNP: rs376901046

NCBI 1000 Genomes Browser:

rs376901046

Molecular consequence:

• NM_000383.4:c.1066C>T - missense variant - [Sequence Ontology: SO:0001583]

Observations:

2