ClinVar

NM_032638.5(GATA2):c.1185T>C (p.Thr395=)

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

3q21.3

Genomic location:

• Chr3: 128481277 (on Assembly GRCh38)
• Chr3: 128200120 (on Assembly GRCh37)

Preferred name:

NM_032638.5(GATA2):c.1185T>C (p.Thr395=)

HGVS:

• NC_000003.12:g.128481277A>G
• NG_029334.1:g.16911T>C
• NM_001145661.2:c.1185T>C
• NM_001145662.1:c.1143T>C
• NM_032638.5:c.1185T>CMANE SELECT
• NP_001139133.1:p.Thr395=
• NP_001139134.1:p.Thr381=
• NP_116027.2:p.Thr395=
• NP_116027.2:p.Thr395=
• LRG_295t2:c.1185T>C
• LRG_295:g.16911T>C
• LRG_295p2:p.Thr395=
• NC_000003.11:g.128200120A>G
• NM_032638.4:c.1185T>C

This HGVS expression did not pass validation

Links:

dbSNP: rs771739064

NCBI 1000 Genomes Browser:

rs771739064

Molecular consequence:

• NM_001145661.2:c.1185T>C - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001145662.1:c.1143T>C - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_032638.5:c.1185T>C - synonymous variant - [Sequence Ontology: SO:0001819]