ClinVar

NM_001308093.3(GATA4):c.309G>T (p.Pro103=)

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

8p23.1

Genomic location:

• Chr8: 11708621 (on Assembly GRCh38)
• Chr8: 11566130 (on Assembly GRCh37)

Preferred name:

NM_001308093.3(GATA4):c.309G>T (p.Pro103=)

HGVS:

• NC_000008.11:g.11708621G>T
• NG_008177.2:g.36703G>T
• NM_001308093.3:c.309G>TMANE SELECT
• NM_001308094.2:c.-6+7843G>T
• NM_001374273.1:c.-3+4317G>T
• NM_001374274.1:c.-3+607G>T
• NM_002052.5:c.309G>T
• NP_001295022.1:p.Pro103=
• NP_002043.2:p.Pro103=
• NC_000008.10:g.11566130G>T
• NM_002052.3:c.309G>T

This HGVS expression did not pass validation

Molecular consequence:

• NM_001308094.2:c.-6+7843G>T - intron variant - [Sequence Ontology: SO:0001627]
• NM_001374273.1:c.-3+4317G>T - intron variant - [Sequence Ontology: SO:0001627]
• NM_001374274.1:c.-3+607G>T - intron variant - [Sequence Ontology: SO:0001627]
• NM_001308093.3:c.309G>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_002052.5:c.309G>T - synonymous variant - [Sequence Ontology: SO:0001819]