ClinVar

NM_000527.5(LDLR):c.1550C>T (p.Ser517Phe)

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

19p13.2

Genomic location:

• Chr19: 11113726 (on Assembly GRCh38)
• Chr19: 11224402 (on Assembly GRCh37)

Preferred name:

NM_000527.5(LDLR):c.1550C>T (p.Ser517Phe)

HGVS:

• NC_000019.10:g.11113726C>T
• NG_009060.1:g.29346C>T
• NM_000527.5:c.1550C>TMANE SELECT
• NM_001195798.2:c.1550C>T
• NM_001195799.2:c.1427C>T
• NM_001195800.2:c.1046C>T
• NM_001195803.2:c.1169C>T
• NP_000518.1:p.Ser517Phe
• NP_001182727.1:p.Ser517Phe
• NP_001182728.1:p.Ser476Phe
• NP_001182729.1:p.Ser349Phe
• NP_001182732.1:p.Ser390Phe
• LRG_274t1:c.1550C>T
• LRG_274:g.29346C>T
• NC_000019.9:g.11224402C>T
• NM_000527.4:c.1550C>T

This HGVS expression did not pass validation

Protein change:

S349F

Links:

dbSNP: rs749126200

NCBI 1000 Genomes Browser:

rs749126200

Molecular consequence:

• NM_000527.5:c.1550C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001195798.2:c.1550C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001195799.2:c.1427C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001195800.2:c.1046C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001195803.2:c.1169C>T - missense variant - [Sequence Ontology: SO:0001583]