ClinVar

NM_004100.5(EYA4):c.347C>T (p.Ala116Val)

Gene:

EYA4:EYA transcriptional coactivator and phosphatase 4 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

6q23.2

Genomic location:

• Chr6: 133456625 (on Assembly GRCh38)
• Chr6: 133777763 (on Assembly GRCh37)

Preferred name:

NM_004100.5(EYA4):c.347C>T (p.Ala116Val)

HGVS:

• NC_000006.12:g.133456625C>T
• NG_011596.2:g.220269C>T
• NM_001301012.2:c.209-4489C>T
• NM_001301013.2:c.347C>T
• NM_001370458.1:c.278C>T
• NM_001370459.1:c.209-4489C>T
• NM_004100.5:c.347C>TMANE SELECT
• NM_172103.4:c.278C>T
• NM_172105.4:c.347C>T
• NP_001287942.1:p.Ala116Val
• NP_001357387.1:p.Ala93Val
• NP_004091.3:p.Ala116Val
• NP_742101.2:p.Ala93Val
• NP_742103.1:p.Ala116Val
• NP_742103.1:p.Ala116Val
• LRG_418t1:c.347C>T
• LRG_418:g.220269C>T
• LRG_418p1:p.Ala116Val
• NC_000006.11:g.133777763C>T
• NM_004100.4:c.347C>T
• NM_172105.3:c.347C>T

This HGVS expression did not pass validation

Protein change:

A116V

Links:

dbSNP: rs747223436

NCBI 1000 Genomes Browser:

rs747223436

Molecular consequence:

• NM_001301012.2:c.209-4489C>T - intron variant - [Sequence Ontology: SO:0001627]
• NM_001370459.1:c.209-4489C>T - intron variant - [Sequence Ontology: SO:0001627]
• NM_001301013.2:c.347C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001370458.1:c.278C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_004100.5:c.347C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_172103.4:c.278C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_172105.4:c.347C>T - missense variant - [Sequence Ontology: SO:0001583]

Observations:

2