ClinVar

NM_004100.5(EYA4):c.860C>T (p.Ala287Val)

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

6q23.2

Genomic location:

• Chr6: 133468621 (on Assembly GRCh38)
• Chr6: 133789759 (on Assembly GRCh37)

Preferred name:

NM_004100.5(EYA4):c.860C>T (p.Ala287Val)

HGVS:

• NC_000006.12:g.133468621C>T
• NG_011596.2:g.232265C>T
• NM_001301012.2:c.698C>T
• NM_001301013.2:c.860C>T
• NM_001370458.1:c.791C>T
• NM_001370459.1:c.698C>T
• NM_004100.5:c.860C>TMANE SELECT
• NM_172103.4:c.791C>T
• NM_172105.4:c.860C>T
• NP_001287941.1:p.Ala233Val
• NP_001287942.1:p.Ala287Val
• NP_001357387.1:p.Ala264Val
• NP_001357388.1:p.Ala233Val
• NP_004091.3:p.Ala287Val
• NP_742101.2:p.Ala264Val
• NP_742103.1:p.Ala287Val
• NP_742103.1:p.Ala287Val
• LRG_418t1:c.860C>T
• LRG_418:g.232265C>T
• LRG_418p1:p.Ala287Val
• NC_000006.11:g.133789759C>T
• NM_004100.4:c.860C>T
• NM_172105.3:c.860C>T

This HGVS expression did not pass validation

Protein change:

A233V

Links:

dbSNP: rs374522988

NCBI 1000 Genomes Browser:

rs374522988

Molecular consequence:

• NM_001301012.2:c.698C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001301013.2:c.860C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001370458.1:c.791C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001370459.1:c.698C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_004100.5:c.860C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_172103.4:c.791C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_172105.4:c.860C>T - missense variant - [Sequence Ontology: SO:0001583]