ClinVar

NM_003383.5(VLDLR):c.180C>T (p.Asp60=)

Gene:

VLDLR:very low density lipoprotein receptor [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

9p24.2

Genomic location:

• Chr9: 2635550 (on Assembly GRCh38)
• Chr9: 2635550 (on Assembly GRCh37)

Preferred name:

NM_003383.5(VLDLR):c.180C>T (p.Asp60=)

HGVS:

• NC_000009.12:g.2635550C>T
• NG_012741.1:g.18758C>T
• NG_012741.2:g.18765C>T
• NM_001018056.3:c.180C>T
• NM_001322225.2:c.180C>T
• NM_001322226.2:c.180C>T
• NM_003383.4:c.180C>T
• NM_003383.5:c.180C>TMANE SELECT
• NP_001018066.1:p.Asp60=
• NP_001309154.1:p.Asp60=
• NP_001309155.1:p.Asp60=
• NP_003374.3:p.Asp60=
• NC_000009.11:g.2635550C>T

This HGVS expression did not pass validation

Molecular consequence:

• NM_001018056.3:c.180C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001322225.2:c.180C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001322226.2:c.180C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_003383.5:c.180C>T - synonymous variant - [Sequence Ontology: SO:0001819]