ClinVar

NM_000280.4(PAX6):c.*3736_*3737delCA

Genes:

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

Variant type:

Deletion

Cytogenetic location:

11p13

Genomic location:

• Chr11: 31786197 - 31786198 (on Assembly GRCh38)
• Chr11: 31807745 - 31807746 (on Assembly GRCh37)

Preferred name:

NM_000280.4(PAX6):c.*3736_*3737delCA

HGVS:

• NC_000011.10:g.31786197_31786198del
• NG_008679.1:g.36764_36765del
• NG_034086.1:g.281469_281470del
• NG_034086.2:g.281432_281433del
• NM_000280.4:c.*3736_*3737delCA
• NM_001288725.2:c.*2659_*2660del
• NM_001288726.2:c.*2768_*2769del
• NM_019040.5:c.*2673_*2674delMANE SELECT
• LRG_720:g.36764_36765del
• NC_000011.9:g.31807745_31807746del
• NM_000280.4:c.*3736_*3737delCA

This HGVS expression did not pass validation

Links:

dbSNP: rs141022497

NCBI 1000 Genomes Browser:

rs141022497

Molecular consequence:

• NM_001288725.2:c.*2659_*2660del - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
• NM_001288726.2:c.*2768_*2769del - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
• NM_019040.5:c.*2673_*2674del - 3 prime UTR variant - [Sequence Ontology: SO:0001624]