ClinVar

NM_000503.6(EYA1):c.1278C>T (p.Gly426=)

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

8q13.3

Genomic location:

• Chr8: 71216774 (on Assembly GRCh38)
• Chr8: 72129009 (on Assembly GRCh37)

Preferred name:

NM_000503.6(EYA1):c.1278C>T (p.Gly426=)

HGVS:

• NC_000008.11:g.71216774G>A
• NG_011735.3:g.336357C>T
• NM_000503.6:c.1278C>TMANE SELECT
• NM_001288574.2:c.1260C>T
• NM_001288575.2:c.912C>T
• NM_001370333.1:c.1365C>T
• NM_001370334.1:c.1278C>T
• NM_001370335.1:c.1278C>T
• NM_001370336.1:c.1257C>T
• NM_172058.4:c.1278C>T
• NM_172059.5:c.1260C>T
• NP_000494.2:p.Gly426=
• NP_001275503.1:p.Gly420=
• NP_001275504.1:p.Gly304=
• NP_001357262.1:p.Gly455=
• NP_001357263.1:p.Gly426=
• NP_001357264.1:p.Gly426=
• NP_001357265.1:p.Gly419=
• NP_742055.1:p.Gly426=
• NP_742056.2:p.Gly420=
• NC_000008.10:g.72129009G>A
• NG_011735.2:g.150459C>T
• NM_000503.4:c.1278C>T
• NM_172058.2:c.1278C>T
• NM_172058.3:c.1278C>T
• c.1278C>T
• p.Gly426Gly

This HGVS expression did not pass validation

Links:

dbSNP: rs4738118

NCBI 1000 Genomes Browser:

rs4738118

Molecular consequence:

• NM_000503.6:c.1278C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001288574.2:c.1260C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001288575.2:c.912C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001370333.1:c.1365C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001370334.1:c.1278C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001370335.1:c.1278C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001370336.1:c.1257C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_172058.4:c.1278C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_172059.5:c.1260C>T - synonymous variant - [Sequence Ontology: SO:0001819]

Observations:

533