ClinVar

NM_000280.4(PAX6):c.*3746C>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: 31786188 (on Assembly GRCh38)
• Chr11: 31807736 (on Assembly GRCh37)

Preferred name:

NM_000280.4(PAX6):c.*3746C>T

HGVS:

• NC_000011.10:g.31786188G>A
• NG_008679.1:g.36774C>T
• NG_034086.1:g.281460G>A
• NG_034086.2:g.281423G>A
• NM_001288725.2:c.*2650G>A
• NM_001288726.2:c.*2759G>A
• NM_019040.5:c.*2664G>AMANE SELECT
• LRG_720:g.36774C>T
• NC_000011.9:g.31807736G>A
• NM_000280.4:c.*3746C>T

This HGVS expression did not pass validation

Links:

dbSNP: rs567720234

NCBI 1000 Genomes Browser:

rs567720234

Molecular consequence:

• NM_001288725.2:c.*2650G>A - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
• NM_001288726.2:c.*2759G>A - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
• NM_019040.5:c.*2664G>A - 3 prime UTR variant - [Sequence Ontology: SO:0001624]