ClinVar

NM_001109878.2(TBX22):c.697G>A (p.Val233Ile)

Gene:

TBX22:T-box transcription factor 22 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

Xq21.1

Genomic location:

• ChrX: 80026767 (on Assembly GRCh38)
• ChrX: 79282266 (on Assembly GRCh37)

Preferred name:

NM_001109878.2(TBX22):c.697G>A (p.Val233Ile)

HGVS:

• NC_000023.11:g.80026767G>A
• NG_008998.1:g.17012G>A
• NM_001109878.2:c.697G>AMANE SELECT
• NM_001109879.2:c.337G>A
• NM_001303475.1:c.337G>A
• NM_016954.2:c.697G>A
• NP_001103348.1:p.Val233Ile
• NP_001103349.1:p.Val113Ile
• NP_001290404.1:p.Val113Ile
• NP_058650.1:p.Val233Ile
• NC_000023.10:g.79282266G>A

This HGVS expression did not pass validation

Protein change:

V113I

Molecular consequence:

• NM_001109878.2:c.697G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001109879.2:c.337G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001303475.1:c.337G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_016954.2:c.697G>A - missense variant - [Sequence Ontology: SO:0001583]

Observations:

1