ClinVar

NM_001308093.3(GATA4):c.1312G>A (p.Gly438Arg)

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

8p23.1

Genomic location:

• Chr8: 11758455 (on Assembly GRCh38)
• Chr8: 11615964 (on Assembly GRCh37)

Preferred name:

NM_001308093.3(GATA4):c.1312G>A (p.Gly438Arg)

HGVS:

• NC_000008.11:g.11758455G>A
• NG_008177.2:g.86537G>A
• NM_001308093.3:c.1312G>AMANE SELECT
• NM_001308094.2:c.691G>A
• NM_001374273.1:c.691G>A
• NM_001374274.1:c.565G>A
• NM_002052.5:c.1309G>A
• NP_001295022.1:p.Gly438Arg
• NP_001295023.1:p.Gly231Arg
• NP_001361202.1:p.Gly231Arg
• NP_001361203.1:p.Gly189Arg
• NP_002043.2:p.Gly437Arg
• NC_000008.10:g.11615964G>A
• NC_000008.10:g.11615964G>A

This HGVS expression did not pass validation

Protein change:

G189R

Links:

dbSNP: rs748737164

NCBI 1000 Genomes Browser:

rs748737164

Molecular consequence:

• NM_001308093.3:c.1312G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001308094.2:c.691G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001374273.1:c.691G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001374274.1:c.565G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_002052.5:c.1309G>A - missense variant - [Sequence Ontology: SO:0001583]