ClinVar

NM_000527.5(LDLR):c.1720C>T (p.Arg574Cys)

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

19p13.2

Genomic location:

• Chr19: 11116873 (on Assembly GRCh38)
• Chr19: 11227549 (on Assembly GRCh37)

Preferred name:

NM_000527.5(LDLR):c.1720C>T (p.Arg574Cys)

Other names:

NM_000527.5(LDLR):c.1720C>T

HGVS:

• NC_000019.10:g.11116873C>T
• NG_009060.1:g.32493C>T
• NM_000527.5:c.1720C>TMANE SELECT
• NM_001195798.2:c.1720C>T
• NM_001195799.2:c.1597C>T
• NM_001195800.2:c.1216C>T
• NM_001195803.2:c.1339C>T
• NP_000518.1:p.Arg574Cys
• NP_000518.1:p.Arg574Cys
• NP_001182727.1:p.Arg574Cys
• NP_001182728.1:p.Arg533Cys
• NP_001182729.1:p.Arg406Cys
• NP_001182732.1:p.Arg447Cys
• LRG_274t1:c.1720C>T
• LRG_274:g.32493C>T
• NC_000019.9:g.11227549C>T
• NM_000527.4(LDLR):c.1720C>T
• NM_000527.4:c.1720C>T
• P01130:p.Arg574Cys
• c.1720C>T
• p.(Arg574Cys)

This HGVS expression did not pass validation

Protein change:

R406C

Links:

LDLR-LOVD, British Heart Foundation: LDLR_000232; UniProtKB: P01130#VAR_072851; dbSNP: rs185098634

NCBI 1000 Genomes Browser:

rs185098634

Molecular consequence:

• NM_000527.5:c.1720C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001195798.2:c.1720C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001195799.2:c.1597C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001195800.2:c.1216C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001195803.2:c.1339C>T - missense variant - [Sequence Ontology: SO:0001583]

Functional consequence:

no known functional consequence - Comment(s)

• non-disruptive missense

Observations:

9