ClinVar

NM_001308093.3(GATA4):c.127C>A (p.Arg43=)

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

8p23.1

Genomic location:

• Chr8: 11708439 (on Assembly GRCh38)
• Chr8: 11565948 (on Assembly GRCh37)

Preferred name:

NM_001308093.3(GATA4):c.127C>A (p.Arg43=)

HGVS:

• NC_000008.11:g.11708439C>A
• NG_008177.2:g.36521C>A
• NM_001308093.3:c.127C>AMANE SELECT
• NM_001308094.2:c.-6+7661C>A
• NM_001374273.1:c.-3+4135C>A
• NM_001374274.1:c.-3+425C>A
• NM_002052.5:c.127C>A
• NP_001295022.1:p.Arg43=
• NP_002043.2:p.Arg43=
• NC_000008.10:g.11565948C>A
• NM_002052.3:c.127C>A

This HGVS expression did not pass validation

Links:

dbSNP: rs387906770

NCBI 1000 Genomes Browser:

rs387906770

Molecular consequence:

• NM_001308094.2:c.-6+7661C>A - intron variant - [Sequence Ontology: SO:0001627]
• NM_001374273.1:c.-3+4135C>A - intron variant - [Sequence Ontology: SO:0001627]
• NM_001374274.1:c.-3+425C>A - intron variant - [Sequence Ontology: SO:0001627]
• NM_001308093.3:c.127C>A - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_002052.5:c.127C>A - synonymous variant - [Sequence Ontology: SO:0001819]