ClinVar

NM_000527.5(LDLR):c.1502C>T (p.Ala501Val)

Gene:

LDLR:low density lipoprotein receptor [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

19p13.2

Genomic location:

• Chr19: 11113678 (on Assembly GRCh38)
• Chr19: 11224354 (on Assembly GRCh37)

Preferred name:

NM_000527.5(LDLR):c.1502C>T (p.Ala501Val)

HGVS:

• NC_000019.10:g.11113678C>T
• NG_009060.1:g.29298C>T
• NM_000527.5:c.1502C>TMANE SELECT
• NM_001195798.2:c.1502C>T
• NM_001195799.2:c.1379C>T
• NM_001195800.2:c.998C>T
• NM_001195803.2:c.1121C>T
• NP_000518.1:p.Ala501Val
• NP_000518.1:p.Ala501Val
• NP_001182727.1:p.Ala501Val
• NP_001182728.1:p.Ala460Val
• NP_001182729.1:p.Ala333Val
• NP_001182732.1:p.Ala374Val
• LRG_274t1:c.1502C>T
• LRG_274:g.29298C>T
• LRG_274p1:p.Ala501Val
• NC_000019.9:g.11224354C>T
• NM_000527.4:c.1502C>T
• c.1502C>T

This HGVS expression did not pass validation

Protein change:

A333V

Links:

LDLR-LOVD, British Heart Foundation: LDLR_000899; dbSNP: rs755667663

NCBI 1000 Genomes Browser:

rs755667663

Molecular consequence:

• NM_000527.5:c.1502C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001195798.2:c.1502C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001195799.2:c.1379C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001195800.2:c.998C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001195803.2:c.1121C>T - missense variant - [Sequence Ontology: SO:0001583]

Observations:

1