ClinVar

NM_001308093.3(GATA4):c.25G>A (p.Ala9Thr)

Gene:

GATA4:GATA binding protein 4 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

8p23.1

Genomic location:

• Chr8: 11708337 (on Assembly GRCh38)
• Chr8: 11565846 (on Assembly GRCh37)

Preferred name:

NM_001308093.3(GATA4):c.25G>A (p.Ala9Thr)

HGVS:

• NC_000008.11:g.11708337G>A
• NG_008177.2:g.36419G>A
• NM_001308093.3:c.25G>AMANE SELECT
• NM_001308094.2:c.-6+7559G>A
• NM_001374273.1:c.-3+4033G>A
• NM_001374274.1:c.-3+323G>A
• NM_002052.5:c.25G>A
• NP_001295022.1:p.Ala9Thr
• NP_002043.2:p.Ala9Thr
• NC_000008.10:g.11565846G>A
• NM_001308093.1:c.25G>A
• NM_002052.4:c.25G>A

This HGVS expression did not pass validation

Protein change:

A9T

Links:

dbSNP: rs864321699

NCBI 1000 Genomes Browser:

rs864321699

Molecular consequence:

• NM_001308094.2:c.-6+7559G>A - intron variant - [Sequence Ontology: SO:0001627]
• NM_001374273.1:c.-3+4033G>A - intron variant - [Sequence Ontology: SO:0001627]
• NM_001374274.1:c.-3+323G>A - intron variant - [Sequence Ontology: SO:0001627]
• NM_001308093.3:c.25G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_002052.5:c.25G>A - missense variant - [Sequence Ontology: SO:0001583]