ClinVar

NM_000527.5(LDLR):c.1936C>A (p.Leu646Ile)

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

19p13.2

Genomic location:

• Chr19: 11120182 (on Assembly GRCh38)
• Chr19: 11230858 (on Assembly GRCh37)

Preferred name:

NM_000527.5(LDLR):c.1936C>A (p.Leu646Ile)

HGVS:

• NC_000019.10:g.11120182C>A
• NG_009060.1:g.35802C>A
• NM_000527.5:c.1936C>AMANE SELECT
• NM_001195798.2:c.1936C>A
• NM_001195799.2:c.1813C>A
• NM_001195800.2:c.1432C>A
• NM_001195803.2:c.1555C>A
• NP_000518.1:p.Leu646Ile
• NP_001182727.1:p.Leu646Ile
• NP_001182728.1:p.Leu605Ile
• NP_001182729.1:p.Leu478Ile
• NP_001182732.1:p.Leu519Ile
• LRG_274:g.35802C>A
• NC_000019.9:g.11230858C>A
• c.1936C>A

This HGVS expression did not pass validation

Protein change:

L478I

Links:

LDLR-LOVD, British Heart Foundation: LDLR_001556; dbSNP: rs779940524

NCBI 1000 Genomes Browser:

rs779940524

Molecular consequence:

• NM_000527.5:c.1936C>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001195798.2:c.1936C>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001195799.2:c.1813C>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001195800.2:c.1432C>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001195803.2:c.1555C>A - missense variant - [Sequence Ontology: SO:0001583]

Observations:

1