ClinVar

NM_001128159.3(VPS53):c.1213G>C (p.Asp405His)

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: 601800 (on Assembly GRCh38)
• Chr17: 505040 (on Assembly GRCh37)

Preferred name:

NM_001128159.3(VPS53):c.1213G>C (p.Asp405His)

HGVS:

• NC_000017.11:g.601800C>G
• NG_034190.1:g.118057G>C
• NM_001128159.3:c.1213G>CMANE SELECT
• NM_001366253.2:c.1213G>C
• NM_001366254.2:c.619G>C
• NM_018289.4:c.1126G>C
• NP_001121631.1:p.Asp405His
• NP_001353182.1:p.Asp405His
• NP_001353183.1:p.Asp207His
• NP_060759.2:p.Asp376His
• NC_000017.10:g.505040C>G
• NM_001128159.2:c.1213G>C

This HGVS expression did not pass validation

Protein change:

D207H

Links:

dbSNP: rs1326877109

NCBI 1000 Genomes Browser:

rs1326877109

Molecular consequence:

• NM_001128159.3:c.1213G>C - missense variant - [Sequence Ontology: SO:0001583]
• NM_001366253.2:c.1213G>C - missense variant - [Sequence Ontology: SO:0001583]
• NM_001366254.2:c.619G>C - missense variant - [Sequence Ontology: SO:0001583]
• NM_018289.4:c.1126G>C - missense variant - [Sequence Ontology: SO:0001583]