ClinVar

NM_001308093.3(GATA4):c.840C>T (p.Thr280=)

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

8p23.1

Genomic location:

• Chr8: 11750164 (on Assembly GRCh38)
• Chr8: 11607673 (on Assembly GRCh37)

Preferred name:

NM_001308093.3(GATA4):c.840C>T (p.Thr280=)

HGVS:

• NC_000008.11:g.11750164C>T
• NG_008177.2:g.78246C>T
• NM_001308093.3:c.840C>TMANE SELECT
• NM_001308094.2:c.219C>T
• NM_001374273.1:c.219C>T
• NM_001374274.1:c.165+1079C>T
• NM_002052.5:c.837C>T
• NP_001295022.1:p.Thr280=
• NP_001295023.1:p.Thr73=
• NP_001361202.1:p.Thr73=
• NP_002043.2:p.Thr279=
• NC_000008.10:g.11607673C>T

This HGVS expression did not pass validation

Links:

dbSNP: rs141114164

NCBI 1000 Genomes Browser:

rs141114164

Molecular consequence:

• NM_001374274.1:c.165+1079C>T - intron variant - [Sequence Ontology: SO:0001627]
• NM_001308093.3:c.840C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001308094.2:c.219C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001374273.1:c.219C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_002052.5:c.837C>T - synonymous variant - [Sequence Ontology: SO:0001819]