ClinVar

NM_001172509.2(SATB2):c.1166G>A (p.Arg389His)

Gene:

SATB2:SATB homeobox 2 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

2q33.1

Genomic location:

• Chr2: 199348708 (on Assembly GRCh38)
• Chr2: 200213431 (on Assembly GRCh37)

Preferred name:

NM_001172509.2(SATB2):c.1166G>A (p.Arg389His)

HGVS:

• NC_000002.12:g.199348708C>T
• NG_016976.2:g.127559G>A
• NM_001172509.2:c.1166G>AMANE SELECT
• NM_001172517.1:c.1166G>A
• NM_015265.4:c.1166G>A
• NP_001165980.1:p.Arg389His
• NP_001165988.1:p.Arg389His
• NP_056080.1:p.Arg389His
• NC_000002.11:g.200213431C>T
• NM_001172509.1:c.1166G>A
• NM_015265.3:c.1166G>A

This HGVS expression did not pass validation

Protein change:

R389H

Molecular consequence:

• NM_001172509.2:c.1166G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001172517.1:c.1166G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_015265.4:c.1166G>A - missense variant - [Sequence Ontology: SO:0001583]