ClinVar

NM_000503.6(EYA1):c.1361-1G>A

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

8q13.3

Genomic location:

• Chr8: 71215729 (on Assembly GRCh38)
• Chr8: 72127964 (on Assembly GRCh37)

Preferred name:

NM_000503.6(EYA1):c.1361-1G>A

HGVS:

• NC_000008.11:g.71215729C>T
• NG_011735.3:g.337402G>A
• NG_011735.4:g.337365G>A
• NM_000503.6:c.1361-1G>AMANE SELECT
• NM_001288574.2:c.1343-1G>A
• NM_001288575.2:c.995-1G>A
• NM_001370333.1:c.1448-1G>A
• NM_001370334.1:c.1361-1G>A
• NM_001370335.1:c.1361-1G>A
• NM_001370336.1:c.1340-1G>A
• NM_001411797.1:c.1262-1G>A
• NM_172058.4:c.1361-1G>A
• NM_172059.5:c.1343-1G>A
• NM_172060.4:c.1262-1G>A
• NC_000008.10:g.72127964C>T
• NC_000008.10:g.72127964C>T

This HGVS expression did not pass validation

Links:

dbSNP: rs397517917

NCBI 1000 Genomes Browser:

rs397517917

Molecular consequence:

• NM_000503.6:c.1361-1G>A - splice acceptor variant - [Sequence Ontology: SO:0001574]
• NM_001288574.2:c.1343-1G>A - splice acceptor variant - [Sequence Ontology: SO:0001574]
• NM_001288575.2:c.995-1G>A - splice acceptor variant - [Sequence Ontology: SO:0001574]
• NM_001370333.1:c.1448-1G>A - splice acceptor variant - [Sequence Ontology: SO:0001574]
• NM_001370334.1:c.1361-1G>A - splice acceptor variant - [Sequence Ontology: SO:0001574]
• NM_001370335.1:c.1361-1G>A - splice acceptor variant - [Sequence Ontology: SO:0001574]
• NM_001370336.1:c.1340-1G>A - splice acceptor variant - [Sequence Ontology: SO:0001574]
• NM_001411797.1:c.1262-1G>A - splice acceptor variant - [Sequence Ontology: SO:0001574]
• NM_172058.4:c.1361-1G>A - splice acceptor variant - [Sequence Ontology: SO:0001574]
• NM_172059.5:c.1343-1G>A - splice acceptor variant - [Sequence Ontology: SO:0001574]
• NM_172060.4:c.1262-1G>A - splice acceptor variant - [Sequence Ontology: SO:0001574]

Observations:

1