ClinVar

NM_000280.4(PAX6):c.*2506C>T

Genes:

PAX6:paired box 6 [Gene - OMIM - HGNC]
ELP4:elongator acetyltransferase complex subunit 4 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

11p13

Genomic location:

• Chr11: 31787428 (on Assembly GRCh38)
• Chr11: 31808976 (on Assembly GRCh37)

Preferred name:

NM_000280.4(PAX6):c.*2506C>T

HGVS:

• NC_000011.10:g.31787428G>A
• NG_008679.1:g.35534C>T
• NG_034086.2:g.282663G>A
• NM_001288725.2:c.*3890G>A
• NM_001288726.2:c.*3999G>A
• NM_019040.5:c.*3904G>AMANE SELECT
• LRG_720:g.35534C>T
• NC_000011.9:g.31808976G>A
• NM_000280.4:c.*2506C>T

This HGVS expression did not pass validation

Links:

dbSNP: rs3026397

NCBI 1000 Genomes Browser:

rs3026397

Molecular consequence:

• NM_001288725.2:c.*3890G>A - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
• NM_001288726.2:c.*3999G>A - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
• NM_019040.5:c.*3904G>A - 3 prime UTR variant - [Sequence Ontology: SO:0001624]

Observations:

2