ClinVar

NM_000503.6(EYA1):c.966+4C>T

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

8q13.3

Genomic location:

• Chr8: 71271754 (on Assembly GRCh38)
• Chr8: 72183989 (on Assembly GRCh37)

Preferred name:

NM_000503.6(EYA1):c.966+4C>T

HGVS:

• NC_000008.11:g.71271754G>A
• NG_011735.3:g.281377C>T
• NM_000503.6:c.966+4C>TMANE SELECT
• NM_001288574.2:c.948+4C>T
• NM_001288575.2:c.600+4C>T
• NM_001370333.1:c.1053+4C>T
• NM_001370334.1:c.966+4C>T
• NM_001370335.1:c.966+4C>T
• NM_001370336.1:c.1035+4C>T
• NM_172058.4:c.966+4C>T
• NM_172059.5:c.1038+4C>T
• NC_000008.10:g.72183989G>A
• NG_011735.2:g.95479C>T
• NM_000503.4:c.966+4C>T
• NM_000503.5:c.966+4C>T
• NM_172058.2:c.966+4C>T

This HGVS expression did not pass validation

Links:

dbSNP: rs139429307

NCBI 1000 Genomes Browser:

rs139429307

Molecular consequence:

• NM_000503.6:c.966+4C>T - intron variant - [Sequence Ontology: SO:0001627]
• NM_001288574.2:c.948+4C>T - intron variant - [Sequence Ontology: SO:0001627]
• NM_001288575.2:c.600+4C>T - intron variant - [Sequence Ontology: SO:0001627]
• NM_001370333.1:c.1053+4C>T - intron variant - [Sequence Ontology: SO:0001627]
• NM_001370334.1:c.966+4C>T - intron variant - [Sequence Ontology: SO:0001627]
• NM_001370335.1:c.966+4C>T - intron variant - [Sequence Ontology: SO:0001627]
• NM_001370336.1:c.1035+4C>T - intron variant - [Sequence Ontology: SO:0001627]
• NM_172058.4:c.966+4C>T - intron variant - [Sequence Ontology: SO:0001627]
• NM_172059.5:c.1038+4C>T - intron variant - [Sequence Ontology: SO:0001627]

Observations:

2