ClinVar

NM_000503.6(EYA1):c.840C>A (p.Ile280=)

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

8q13.3

Genomic location:

• Chr8: 71271884 (on Assembly GRCh38)
• Chr8: 72184119 (on Assembly GRCh37)

Preferred name:

NM_000503.6(EYA1):c.840C>A (p.Ile280=)

HGVS:

• NC_000008.11:g.71271884G>T
• NG_011735.3:g.281247C>A
• NM_000503.6:c.840C>AMANE SELECT
• NM_001288574.2:c.822C>A
• NM_001288575.2:c.474C>A
• NM_001370333.1:c.927C>A
• NM_001370334.1:c.840C>A
• NM_001370335.1:c.840C>A
• NM_001370336.1:c.909C>A
• NM_172058.4:c.840C>A
• NM_172059.5:c.912C>A
• NP_000494.2:p.Ile280=
• NP_001275503.1:p.Ile274=
• NP_001275504.1:p.Ile158=
• NP_001357262.1:p.Ile309=
• NP_001357263.1:p.Ile280=
• NP_001357264.1:p.Ile280=
• NP_001357265.1:p.Ile303=
• NP_742055.1:p.Ile280=
• NP_742056.2:p.Ile304=
• NC_000008.10:g.72184119G>T
• NG_011735.2:g.95349C>A
• NM_000503.4:c.840C>A
• NM_000503.5:c.840C>A
• NM_172058.2:c.840C>A
• NM_172058.3:c.840C>A
• p.Ile280Ile

This HGVS expression did not pass validation

Links:

dbSNP: rs55972891

NCBI 1000 Genomes Browser:

rs55972891

Molecular consequence:

• NM_000503.6:c.840C>A - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001288574.2:c.822C>A - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001288575.2:c.474C>A - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001370333.1:c.927C>A - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001370334.1:c.840C>A - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001370335.1:c.840C>A - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001370336.1:c.909C>A - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_172058.4:c.840C>A - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_172059.5:c.912C>A - synonymous variant - [Sequence Ontology: SO:0001819]

Observations:

2