ClinVar

NM_001172509.2(SATB2):c.410C>T (p.Ala137Val)

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

2q33.1

Genomic location:

• Chr2: 199381757 (on Assembly GRCh38)
• Chr2: 200246480 (on Assembly GRCh37)

Preferred name:

NM_001172509.2(SATB2):c.410C>T (p.Ala137Val)

HGVS:

• NC_000002.12:g.199381757G>A
• NG_016976.2:g.94510C>T
• NM_001172509.2:c.410C>TMANE SELECT
• NM_001172517.1:c.410C>T
• NM_015265.3:c.410C>T
• NM_015265.4:c.410C>T
• NP_001165980.1:p.Ala137Val
• NP_001165988.1:p.Ala137Val
• NP_056080.1:p.Ala137Val
• NC_000002.11:g.200246480G>A

This HGVS expression did not pass validation

Protein change:

A137V

Links:

dbSNP: rs746240750

NCBI 1000 Genomes Browser:

rs746240750

Molecular consequence:

• NM_001172509.2:c.410C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001172517.1:c.410C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_015265.4:c.410C>T - missense variant - [Sequence Ontology: SO:0001583]

Observations:

1