ClinVar

NM_032638.5(GATA2):c.593C>T (p.Ala198Val)

Gene:

GATA2:GATA binding protein 2 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

3q21.3

Genomic location:

• Chr3: 128486005 (on Assembly GRCh38)
• Chr3: 128204848 (on Assembly GRCh37)

Preferred name:

NM_032638.5(GATA2):c.593C>T (p.Ala198Val)

HGVS:

• NC_000003.12:g.128486005G>A
• NG_029334.1:g.12183C>T
• NM_001145661.2:c.593C>T
• NM_001145662.1:c.593C>T
• NM_032638.5:c.593C>TMANE SELECT
• NP_001139133.1:p.Ala198Val
• NP_001139134.1:p.Ala198Val
• NP_116027.2:p.Ala198Val
• NP_116027.2:p.Ala198Val
• LRG_295t2:c.593C>T
• LRG_295:g.12183C>T
• LRG_295p2:p.Ala198Val
• NC_000003.11:g.128204848G>A
• NM_032638.4:c.593C>T

This HGVS expression did not pass validation

Protein change:

A198V

Links:

dbSNP: rs745726293

NCBI 1000 Genomes Browser:

rs745726293

Molecular consequence:

• NM_001145661.2:c.593C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001145662.1:c.593C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_032638.5:c.593C>T - missense variant - [Sequence Ontology: SO:0001583]