ClinVar

NM_001308093.3(GATA4):c.787-224G>A

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

8p23.1

Genomic location:

• Chr8: 11749887 (on Assembly GRCh38)
• Chr8: 11607396 (on Assembly GRCh37)

Preferred name:

NM_001308093.3(GATA4):c.787-224G>A

HGVS:

• NC_000008.11:g.11749887G>A
• NG_008177.2:g.77969G>A
• NM_001308093.3:c.787-224G>AMANE SELECT
• NM_001308094.2:c.166-224G>A
• NM_001374273.1:c.166-224G>A
• NM_001374274.1:c.165+802G>A
• NM_002052.5:c.784-224G>A
• NC_000008.10:g.11607396G>A

This HGVS expression did not pass validation

Links:

dbSNP: rs3735814

NCBI 1000 Genomes Browser:

rs3735814

Molecular consequence:

• NM_001308093.3:c.787-224G>A - intron variant - [Sequence Ontology: SO:0001627]
• NM_001308094.2:c.166-224G>A - intron variant - [Sequence Ontology: SO:0001627]
• NM_001374273.1:c.166-224G>A - intron variant - [Sequence Ontology: SO:0001627]
• NM_001374274.1:c.165+802G>A - intron variant - [Sequence Ontology: SO:0001627]
• NM_002052.5:c.784-224G>A - intron variant - [Sequence Ontology: SO:0001627]