ClinVar

NM_001308093.3(GATA4):c.134C>T (p.Pro45Leu)

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

8p23.1

Genomic location:

• Chr8: 11708446 (on Assembly GRCh38)
• Chr8: 11565955 (on Assembly GRCh37)

Preferred name:

NM_001308093.3(GATA4):c.134C>T (p.Pro45Leu)

HGVS:

• NC_000008.11:g.11708446C>T
• NG_008177.2:g.36528C>T
• NM_001308093.3:c.134C>TMANE SELECT
• NM_001308094.2:c.-6+7668C>T
• NM_001374273.1:c.-3+4142C>T
• NM_001374274.1:c.-3+432C>T
• NM_002052.5:c.134C>T
• NP_001295022.1:p.Pro45Leu
• NP_002043.2:p.Pro45Leu
• NC_000008.10:g.11565955C>T
• NM_002052.3:c.134C>T

This HGVS expression did not pass validation

Protein change:

P45L

Links:

dbSNP: rs2130067843

NCBI 1000 Genomes Browser:

rs2130067843

Molecular consequence:

• NM_001308094.2:c.-6+7668C>T - intron variant - [Sequence Ontology: SO:0001627]
• NM_001374273.1:c.-3+4142C>T - intron variant - [Sequence Ontology: SO:0001627]
• NM_001374274.1:c.-3+432C>T - intron variant - [Sequence Ontology: SO:0001627]
• NM_001308093.3:c.134C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_002052.5:c.134C>T - missense variant - [Sequence Ontology: SO:0001583]