ClinVar

NM_001308093.3(GATA4):c.260C>A (p.Pro87Gln)

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

8p23.1

Genomic location:

• Chr8: 11708572 (on Assembly GRCh38)
• Chr8: 11566081 (on Assembly GRCh37)

Preferred name:

NM_001308093.3(GATA4):c.260C>A (p.Pro87Gln)

HGVS:

• NC_000008.11:g.11708572C>A
• NG_008177.2:g.36654C>A
• NM_001308093.3:c.260C>AMANE SELECT
• NM_001308094.2:c.-6+7794C>A
• NM_001374273.1:c.-3+4268C>A
• NM_001374274.1:c.-3+558C>A
• NM_002052.5:c.260C>A
• NP_001295022.1:p.Pro87Gln
• NP_002043.2:p.Pro87Gln
• NC_000008.10:g.11566081C>A
• NM_002052.3:c.260C>A

This HGVS expression did not pass validation

Protein change:

P87Q

Links:

dbSNP: rs1050251819

NCBI 1000 Genomes Browser:

rs1050251819

Molecular consequence:

• NM_001308094.2:c.-6+7794C>A - intron variant - [Sequence Ontology: SO:0001627]
• NM_001374273.1:c.-3+4268C>A - intron variant - [Sequence Ontology: SO:0001627]
• NM_001374274.1:c.-3+558C>A - intron variant - [Sequence Ontology: SO:0001627]
• NM_001308093.3:c.260C>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_002052.5:c.260C>A - missense variant - [Sequence Ontology: SO:0001583]