ClinVar

NM_000503.6(EYA1):c.783G>A (p.Pro261=)

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

8q13.3

Genomic location:

• Chr8: 71299090 (on Assembly GRCh38)
• Chr8: 72211325 (on Assembly GRCh37)

Preferred name:

NM_000503.6(EYA1):c.783G>A (p.Pro261=)

HGVS:

• NC_000008.11:g.71299090C>T
• NG_011735.3:g.254041G>A
• NM_000503.6:c.783G>AMANE SELECT
• NM_001288574.2:c.765G>A
• NM_001288575.2:c.417G>A
• NM_001370333.1:c.870G>A
• NM_001370334.1:c.783G>A
• NM_001370335.1:c.783G>A
• NM_001370336.1:c.852G>A
• NM_172058.4:c.783G>A
• NM_172059.5:c.855G>A
• NP_000494.2:p.Pro261=
• NP_001275503.1:p.Pro255=
• NP_001275504.1:p.Pro139=
• NP_001357262.1:p.Pro290=
• NP_001357263.1:p.Pro261=
• NP_001357264.1:p.Pro261=
• NP_001357265.1:p.Pro284=
• NP_742055.1:p.Pro261=
• NP_742056.2:p.Pro285=
• NC_000008.10:g.72211325C>T
• NG_011735.2:g.68143G>A
• NM_000503.4:c.783G>A
• NM_000503.5:c.783G>A

This HGVS expression did not pass validation

Links:

dbSNP: rs146648560

NCBI 1000 Genomes Browser:

rs146648560

Molecular consequence:

• NM_000503.6:c.783G>A - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001288574.2:c.765G>A - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001288575.2:c.417G>A - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001370333.1:c.870G>A - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001370334.1:c.783G>A - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001370335.1:c.783G>A - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001370336.1:c.852G>A - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_172058.4:c.783G>A - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_172059.5:c.855G>A - synonymous variant - [Sequence Ontology: SO:0001819]