ClinVar

NM_032638.5(GATA2):c.1274C>T (p.Ser425Leu)

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

3q21.3

Genomic location:

• Chr3: 128481188 (on Assembly GRCh38)
• Chr3: 128200031 (on Assembly GRCh37)

Preferred name:

NM_032638.5(GATA2):c.1274C>T (p.Ser425Leu)

HGVS:

• NC_000003.12:g.128481188G>A
• NG_029334.1:g.17000C>T
• NM_001145661.2:c.1274C>T
• NM_001145662.1:c.1232C>T
• NM_032638.5:c.1274C>TMANE SELECT
• NP_001139133.1:p.Ser425Leu
• NP_001139134.1:p.Ser411Leu
• NP_116027.2:p.Ser425Leu
• NP_116027.2:p.Ser425Leu
• LRG_295t1:c.1274C>T
• LRG_295t2:c.1274C>T
• LRG_295:g.17000C>T
• LRG_295p2:p.Ser425Leu
• NC_000003.11:g.128200031G>A
• NM_001145661.1:c.1274C>T
• NM_032638.4:c.1274C>T

This HGVS expression did not pass validation

Protein change:

S411L

Links:

dbSNP: rs146554939

NCBI 1000 Genomes Browser:

rs146554939

Molecular consequence:

• NM_001145661.2:c.1274C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001145662.1:c.1232C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_032638.5:c.1274C>T - missense variant - [Sequence Ontology: SO:0001583]