ClinVar

NM_000527.5(LDLR):c.325T>C (p.Cys109Arg)

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

19p13.2

Genomic location:

• Chr19: 11105231 (on Assembly GRCh38)
• Chr19: 11215907 (on Assembly GRCh37)

Preferred name:

NM_000527.5(LDLR):c.325T>C (p.Cys109Arg)

HGVS:

• NC_000019.10:g.11105231T>C
• NG_009060.1:g.20851T>C
• NM_000527.5:c.325T>CMANE SELECT
• NM_001195798.2:c.325T>C
• NM_001195799.2:c.202T>C
• NM_001195800.2:c.314-2161T>C
• NM_001195803.2:c.314-1334T>C
• NP_000518.1:p.Cys109Arg
• NP_000518.1:p.Cys109Arg
• NP_001182727.1:p.Cys109Arg
• NP_001182728.1:p.Cys68Arg
• LRG_274t1:c.325T>C
• LRG_274:g.20851T>C
• NC_000019.9:g.11215907T>C
• NM_000527.4(LDLR):c.325T>C
• NM_000527.4:c.325T>C
• P01130:p.Cys109Arg
• c.325T>C

This HGVS expression did not pass validation

Protein change:

C109R

Links:

LDLR-LOVD, British Heart Foundation: LDLR_001701; UniProtKB: P01130#VAR_005316; dbSNP: rs140807148

NCBI 1000 Genomes Browser:

rs140807148

Molecular consequence:

• NM_001195800.2:c.314-2161T>C - intron variant - [Sequence Ontology: SO:0001627]
• NM_001195803.2:c.314-1334T>C - intron variant - [Sequence Ontology: SO:0001627]
• NM_000527.5:c.325T>C - missense variant - [Sequence Ontology: SO:0001583]
• NM_001195798.2:c.325T>C - missense variant - [Sequence Ontology: SO:0001583]
• NM_001195799.2:c.202T>C - missense variant - [Sequence Ontology: SO:0001583]

Observations:

1