ClinVar

NM_001308093.3(GATA4):c.836C>T (p.Thr279Ile)

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

8p23.1

Genomic location:

• Chr8: 11750160 (on Assembly GRCh38)
• Chr8: 11607669 (on Assembly GRCh37)

Preferred name:

NM_001308093.3(GATA4):c.836C>T (p.Thr279Ile)

HGVS:

• NC_000008.11:g.11750160C>T
• NG_008177.2:g.78242C>T
• NM_001308093.3:c.836C>TMANE SELECT
• NM_001308094.2:c.215C>T
• NM_001374273.1:c.215C>T
• NM_001374274.1:c.165+1075C>T
• NM_002052.5:c.833C>T
• NP_001295022.1:p.Thr279Ile
• NP_001295023.1:p.Thr72Ile
• NP_001361202.1:p.Thr72Ile
• NP_002043.2:p.Thr278Ile
• NC_000008.10:g.11607669C>T
• NM_002052.3:c.833C>T

This HGVS expression did not pass validation

Protein change:

T278I

Links:

dbSNP: rs1203275387

NCBI 1000 Genomes Browser:

rs1203275387

Molecular consequence:

• NM_001374274.1:c.165+1075C>T - intron variant - [Sequence Ontology: SO:0001627]
• NM_001308093.3:c.836C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001308094.2:c.215C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001374273.1:c.215C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_002052.5:c.833C>T - missense variant - [Sequence Ontology: SO:0001583]