ClinVar

NM_000503.6(EYA1):c.1273C>T (p.Arg425Trp)

Gene:

EYA1:EYA transcriptional coactivator and phosphatase 1 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

8q13.3

Genomic location:

• Chr8: 71216779 (on Assembly GRCh38)
• Chr8: 72129014 (on Assembly GRCh37)

Preferred name:

NM_000503.6(EYA1):c.1273C>T (p.Arg425Trp)

HGVS:

• NC_000008.11:g.71216779G>A
• NG_011735.3:g.336352C>T
• NM_000503.4:c.1273C>T
• NM_000503.6:c.1273C>TMANE SELECT
• NM_001288574.2:c.1255C>T
• NM_001288575.2:c.907C>T
• NM_001370333.1:c.1360C>T
• NM_001370334.1:c.1273C>T
• NM_001370335.1:c.1273C>T
• NM_001370336.1:c.1252C>T
• NM_172058.4:c.1273C>T
• NM_172059.5:c.1255C>T
• NP_000494.2:p.Arg425Trp
• NP_001275503.1:p.Arg419Trp
• NP_001275504.1:p.Arg303Trp
• NP_001357262.1:p.Arg454Trp
• NP_001357263.1:p.Arg425Trp
• NP_001357264.1:p.Arg425Trp
• NP_001357265.1:p.Arg418Trp
• NP_742055.1:p.Arg425Trp
• NP_742056.2:p.Arg419Trp
• NC_000008.10:g.72129014G>A

This HGVS expression did not pass validation

Protein change:

R303W

Links:

dbSNP: rs779423947

NCBI 1000 Genomes Browser:

rs779423947

Molecular consequence:

• NM_000503.6:c.1273C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001288574.2:c.1255C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001288575.2:c.907C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001370333.1:c.1360C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001370334.1:c.1273C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001370335.1:c.1273C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001370336.1:c.1252C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_172058.4:c.1273C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_172059.5:c.1255C>T - missense variant - [Sequence Ontology: SO:0001583]