ClinVar

NM_001128159.3(VPS53):c.1218+16G>A

Genes:

LOC126862457:BRD4-independent group 4 enhancer GRCh37_chr17:504328-505527 [Gene]
VPS53:VPS53 subunit of GARP complex [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

17p13.3

Genomic location:

• Chr17: 601779 (on Assembly GRCh38)
• Chr17: 505019 (on Assembly GRCh37)

Preferred name:

NM_001128159.3(VPS53):c.1218+16G>A

HGVS:

• NC_000017.11:g.601779C>T
• NG_034190.1:g.118078G>A
• NG_086955.1:g.792C>T
• NM_001128159.3:c.1218+16G>AMANE SELECT
• NM_001366253.2:c.1218+16G>A
• NM_001366254.2:c.624+16G>A
• NM_018289.4:c.1131+16G>A
• NC_000017.10:g.505019C>T

This HGVS expression did not pass validation

Molecular consequence:

• NM_001128159.3:c.1218+16G>A - intron variant - [Sequence Ontology: SO:0001627]
• NM_001366253.2:c.1218+16G>A - intron variant - [Sequence Ontology: SO:0001627]
• NM_001366254.2:c.624+16G>A - intron variant - [Sequence Ontology: SO:0001627]
• NM_018289.4:c.1131+16G>A - intron variant - [Sequence Ontology: SO:0001627]