ClinVar

NM_000503.6(EYA1):c.1748T>C (p.Leu583Pro)

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

8q13.3

Genomic location:

• Chr8: 71199371 (on Assembly GRCh38)
• Chr8: 72111606 (on Assembly GRCh37)

Preferred name:

NM_000503.6(EYA1):c.1748T>C (p.Leu583Pro)

HGVS:

• NC_000008.11:g.71199371A>G
• NG_011735.3:g.353760T>C
• NM_000503.6:c.1748T>CMANE SELECT
• NM_001288574.2:c.1730T>C
• NM_001288575.2:c.1382T>C
• NM_001370333.1:c.1835T>C
• NM_001370334.1:c.1748T>C
• NM_001370335.1:c.1748T>C
• NM_001370336.1:c.1727T>C
• NM_172058.4:c.1748T>C
• NM_172059.5:c.1730T>C
• NP_000494.2:p.Leu583Pro
• NP_001275503.1:p.Leu577Pro
• NP_001275504.1:p.Leu461Pro
• NP_001357262.1:p.Leu612Pro
• NP_001357263.1:p.Leu583Pro
• NP_001357264.1:p.Leu583Pro
• NP_001357265.1:p.Leu576Pro
• NP_742055.1:p.Leu583Pro
• NP_742056.2:p.Leu577Pro
• NC_000008.10:g.72111606A>G
• NG_011735.2:g.167862T>C
• NM_000503.4:c.1748T>C
• NM_000503.5:c.1748T>C
• NM_172058.2:c.1748T>C
• Q99502:p.Leu583Pro
• c.1748T>C

This HGVS expression did not pass validation

Protein change:

L461P

Links:

UniProtKB: Q99502#VAR_016869; dbSNP: rs397517920

NCBI 1000 Genomes Browser:

rs397517920

Molecular consequence:

• NM_000503.6:c.1748T>C - missense variant - [Sequence Ontology: SO:0001583]
• NM_001288574.2:c.1730T>C - missense variant - [Sequence Ontology: SO:0001583]
• NM_001288575.2:c.1382T>C - missense variant - [Sequence Ontology: SO:0001583]
• NM_001370333.1:c.1835T>C - missense variant - [Sequence Ontology: SO:0001583]
• NM_001370334.1:c.1748T>C - missense variant - [Sequence Ontology: SO:0001583]
• NM_001370335.1:c.1748T>C - missense variant - [Sequence Ontology: SO:0001583]
• NM_001370336.1:c.1727T>C - missense variant - [Sequence Ontology: SO:0001583]
• NM_172058.4:c.1748T>C - missense variant - [Sequence Ontology: SO:0001583]
• NM_172059.5:c.1730T>C - missense variant - [Sequence Ontology: SO:0001583]