ClinVar

NM_004100.5(EYA4):c.1434G>T (p.Met478Ile)

Genes:

EYA4:EYA transcriptional coactivator and phosphatase 4 [Gene - OMIM - HGNC]
TARID:TCF21 antisense RNA inducing promoter demethylation [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

6q23.2

Genomic location:

• Chr6: 133512971 (on Assembly GRCh38)
• Chr6: 133834109 (on Assembly GRCh37)

Preferred name:

NM_004100.5(EYA4):c.1434G>T (p.Met478Ile)

HGVS:

• NC_000006.12:g.133512971G>T
• NG_011596.2:g.276615G>T
• NM_001301012.2:c.1272G>T
• NM_001301013.2:c.1452G>T
• NM_001370458.1:c.1365G>T
• NM_001370459.1:c.1290G>T
• NM_004100.5:c.1434G>TMANE SELECT
• NM_172103.4:c.1365G>T
• NM_172105.4:c.1434G>T
• NP_001287941.1:p.Met424Ile
• NP_001287942.1:p.Met484Ile
• NP_001357387.1:p.Met455Ile
• NP_001357388.1:p.Met430Ile
• NP_004091.3:p.Met478Ile
• NP_742101.2:p.Met455Ile
• NP_742103.1:p.Met478Ile
• LRG_418t1:c.1434G>T
• LRG_418:g.276615G>T
• LRG_418p1:p.Met478Ile
• NC_000006.11:g.133834109G>T
• NM_004100.4:c.1434G>T

This HGVS expression did not pass validation

Protein change:

M424I

Links:

dbSNP: rs1187396214

NCBI 1000 Genomes Browser:

rs1187396214

Molecular consequence:

• NM_001301012.2:c.1272G>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001301013.2:c.1452G>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001370458.1:c.1365G>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001370459.1:c.1290G>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_004100.5:c.1434G>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_172103.4:c.1365G>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_172105.4:c.1434G>T - missense variant - [Sequence Ontology: SO:0001583]