ClinVar

NM_000503.6(EYA1):c.1523C>T (p.Ala508Val)

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

8q13.3

Genomic location:

• Chr8: 71215461 (on Assembly GRCh38)
• Chr8: 72127696 (on Assembly GRCh37)

Preferred name:

NM_000503.6(EYA1):c.1523C>T (p.Ala508Val)

HGVS:

• NC_000008.11:g.71215461G>A
• NG_011735.2:g.151772C>T
• NG_011735.3:g.337670C>T
• NM_000503.6:c.1523C>TMANE SELECT
• NM_001288574.2:c.1505C>T
• NM_001288575.2:c.1157C>T
• NM_001370333.1:c.1610C>T
• NM_001370334.1:c.1523C>T
• NM_001370335.1:c.1523C>T
• NM_001370336.1:c.1502C>T
• NM_172058.4:c.1523C>T
• NM_172059.5:c.1505C>T
• NP_000494.2:p.Ala508Val
• NP_001275503.1:p.Ala502Val
• NP_001275504.1:p.Ala386Val
• NP_001357262.1:p.Ala537Val
• NP_001357263.1:p.Ala508Val
• NP_001357264.1:p.Ala508Val
• NP_001357265.1:p.Ala501Val
• NP_742055.1:p.Ala508Val
• NP_742056.2:p.Ala502Val
• NC_000008.10:g.72127696G>A
• NM_000503.5:c.1523C>T

This HGVS expression did not pass validation

Protein change:

A386V

Links:

dbSNP: rs754901033

NCBI 1000 Genomes Browser:

rs754901033

Molecular consequence:

• NM_000503.6:c.1523C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001288574.2:c.1505C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001288575.2:c.1157C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001370333.1:c.1610C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001370334.1:c.1523C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001370335.1:c.1523C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001370336.1:c.1502C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_172058.4:c.1523C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_172059.5:c.1505C>T - missense variant - [Sequence Ontology: SO:0001583]

Observations:

1