ClinVar

NM_032638.5(GATA2):c.1113C>T (p.Asn371=)

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

3q21.3

Genomic location:

• Chr3: 128481849 (on Assembly GRCh38)
• Chr3: 128200692 (on Assembly GRCh37)

Preferred name:

NM_032638.5(GATA2):c.1113C>T (p.Asn371=)

HGVS:

• NC_000003.12:g.128481849G>A
• NG_029334.1:g.16339C>T
• NM_001145661.2:c.1113C>T
• NM_001145662.1:c.1071C>T
• NM_032638.5:c.1113C>TMANE SELECT
• NP_001139133.1:p.Asn371=
• NP_001139134.1:p.Asn357=
• NP_116027.2:p.Asn371=
• NP_116027.2:p.Asn371=
• LRG_295t2:c.1113C>T
• LRG_295:g.16339C>T
• LRG_295p2:p.Asn371=
• NC_000003.11:g.128200692G>A
• NM_032638.4:c.1113C>T

This HGVS expression did not pass validation

Links:

dbSNP: rs376003468

NCBI 1000 Genomes Browser:

rs376003468

Molecular consequence:

• NM_001145661.2:c.1113C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001145662.1:c.1071C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_032638.5:c.1113C>T - synonymous variant - [Sequence Ontology: SO:0001819]

Observations:

1