ClinVar

NM_000503.6(EYA1):c.-24G>T

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

8q13.3

Genomic location:

• Chr8: 71356481 (on Assembly GRCh38)
• Chr8: 72268716 (on Assembly GRCh37)

Preferred name:

NM_000503.6(EYA1):c.-24G>T

HGVS:

• NC_000008.11:g.71356481C>A
• NG_011735.2:g.10752G>T
• NG_011735.3:g.196650G>T
• NM_000503.6:c.-24G>TMANE SELECT
• NM_001288574.2:c.-24G>T
• NM_001288575.2:c.-308G>T
• NM_001370333.1:c.64G>T
• NM_001370334.1:c.-24G>T
• NM_001370335.1:c.-24G>T
• NM_001370336.1:c.64G>T
• NM_172058.4:c.-24G>T
• NM_172059.5:c.64G>T
• NP_001357262.1:p.Ala22Ser
• NP_001357265.1:p.Ala22Ser
• NP_742056.2:p.Ala22Ser
• NC_000008.10:g.72268716C>A

This HGVS expression did not pass validation

Protein change:

A22S

Links:

dbSNP: rs759264949

NCBI 1000 Genomes Browser:

rs759264949

Molecular consequence:

• NM_000503.6:c.-24G>T - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
• NM_001288574.2:c.-24G>T - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
• NM_001288575.2:c.-308G>T - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
• NM_001370334.1:c.-24G>T - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
• NM_001370335.1:c.-24G>T - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
• NM_172058.4:c.-24G>T - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
• NM_001370333.1:c.64G>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001370336.1:c.64G>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_172059.5:c.64G>T - missense variant - [Sequence Ontology: SO:0001583]

Observations:

1