ClinVar

NM_001308093.3(GATA4):c.620A>G (p.Asp207Gly)

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

8p23.1

Genomic location:

• Chr8: 11748919 (on Assembly GRCh38)
• Chr8: 11606428 (on Assembly GRCh37)

Preferred name:

NM_001308093.3(GATA4):c.620A>G (p.Asp207Gly)

HGVS:

• NC_000008.11:g.11748919A>G
• NG_008177.2:g.77001A>G
• NM_001308093.3:c.620A>GMANE SELECT
• NM_001308094.2:c.-2A>G
• NM_001374273.1:c.-2A>G
• NM_001374274.1:c.-2A>G
• NM_002052.5:c.617A>G
• NP_001295022.1:p.Asp207Gly
• NP_002043.2:p.Asp206Gly
• NC_000008.10:g.11606428A>G

This HGVS expression did not pass validation

Protein change:

D206G

Molecular consequence:

• NM_001308094.2:c.-2A>G - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
• NM_001374273.1:c.-2A>G - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
• NM_001374274.1:c.-2A>G - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
• NM_001308093.3:c.620A>G - missense variant - [Sequence Ontology: SO:0001583]
• NM_002052.5:c.617A>G - missense variant - [Sequence Ontology: SO:0001583]

Observations:

1