ClinVar

NM_000527.5(LDLR):c.1945C>T (p.Pro649Ser)

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

19p13.2

Genomic location:

• Chr19: 11120191 (on Assembly GRCh38)
• Chr19: 11230867 (on Assembly GRCh37)

Preferred name:

NM_000527.5(LDLR):c.1945C>T (p.Pro649Ser)

HGVS:

• NC_000019.10:g.11120191C>T
• NG_009060.1:g.35811C>T
• NM_000527.4:c.1945C>T
• NM_000527.5:c.1945C>TMANE SELECT
• NM_001195798.2:c.1945C>T
• NM_001195799.2:c.1822C>T
• NM_001195800.2:c.1441C>T
• NM_001195803.2:c.1564C>T
• NP_000518.1:p.Pro649Ser
• NP_001182727.1:p.Pro649Ser
• NP_001182728.1:p.Pro608Ser
• NP_001182729.1:p.Pro481Ser
• NP_001182732.1:p.Pro522Ser
• LRG_274t1:c.1945C>T
• LRG_274:g.35811C>T
• NC_000019.9:g.11230867C>T
• c.1945C>T

This HGVS expression did not pass validation

Protein change:

P481S

Links:

LDLR-LOVD, British Heart Foundation: LDLR_001558; dbSNP: rs879255080

NCBI 1000 Genomes Browser:

rs879255080

Molecular consequence:

• NM_000527.5:c.1945C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001195798.2:c.1945C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001195799.2:c.1822C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001195800.2:c.1441C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001195803.2:c.1564C>T - missense variant - [Sequence Ontology: SO:0001583]