ClinVar

NM_001308093.3(GATA4):c.251_252delinsCC (p.Gln84Pro)

Gene:

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

Variant type:

Indel

Cytogenetic location:

8p23.1

Genomic location:

• Chr8: 11708563 - 11708564 (on Assembly GRCh38)
• Chr8: 11566072 - 11566073 (on Assembly GRCh37)

Preferred name:

NM_001308093.3(GATA4):c.251_252delinsCC (p.Gln84Pro)

HGVS:

• NC_000008.11:g.11708563_11708564delinsCC
• NG_008177.2:g.36645_36646delinsCC
• NM_001308093.3:c.251_252delinsCCMANE SELECT
• NM_001308094.2:c.-6+7785_-6+7786delinsCC
• NM_001374273.1:c.-3+4259_-3+4260delinsCC
• NM_001374274.1:c.-3+549_-3+550delinsCC
• NM_002052.5:c.251_252delinsCC
• NP_001295022.1:p.Gln84Pro
• NP_002043.2:p.Gln84Pro
• NC_000008.10:g.11566072_11566073delinsCC
• NM_002052.3:c.251_252delinsCC

This HGVS expression did not pass validation

Protein change:

Q84P

Links:

dbSNP: rs2130068883

NCBI 1000 Genomes Browser:

rs2130068883

Molecular consequence:

• NM_001308094.2:c.-6+7785_-6+7786delinsCC - intron variant - [Sequence Ontology: SO:0001627]
• NM_001374273.1:c.-3+4259_-3+4260delinsCC - intron variant - [Sequence Ontology: SO:0001627]
• NM_001374274.1:c.-3+549_-3+550delinsCC - intron variant - [Sequence Ontology: SO:0001627]
• NM_001308093.3:c.251_252delinsCC - missense variant - [Sequence Ontology: SO:0001583]
• NM_002052.5:c.251_252delinsCC - missense variant - [Sequence Ontology: SO:0001583]