ClinVar

NM_033305.3(VPS13A):c.6018G>A (p.Leu2006=)

Gene:

VPS13A:vacuolar protein sorting 13 homolog A [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

9q21.2

Genomic location:

• Chr9: 77332036 (on Assembly GRCh38)
• Chr9: 79946952 (on Assembly GRCh37)

Preferred name:

NM_033305.3(VPS13A):c.6018G>A (p.Leu2006=)

HGVS:

• NC_000009.12:g.77332036G>A
• NG_008931.1:g.159592G>A
• NM_001018037.2:c.5901G>A
• NM_001018038.3:c.6018G>A
• NM_015186.4:c.6018G>A
• NM_033305.3:c.6018G>AMANE SELECT
• NP_001018047.1:p.Leu1967=
• NP_001018048.1:p.Leu2006=
• NP_056001.1:p.Leu2006=
• NP_150648.2:p.Leu2006=
• NC_000009.11:g.79946952G>A
• NM_033305.2:c.6018G>A

This HGVS expression did not pass validation

Links:

dbSNP: rs201300715

NCBI 1000 Genomes Browser:

rs201300715

Molecular consequence:

• NM_001018037.2:c.5901G>A - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001018038.3:c.6018G>A - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_015186.4:c.6018G>A - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_033305.3:c.6018G>A - synonymous variant - [Sequence Ontology: SO:0001819]