ClinVar

NM_000527.5(LDLR):c.314C>T (p.Pro105Leu)

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

19p13.2

Genomic location:

• Chr19: 11105220 (on Assembly GRCh38)
• Chr19: 11215896 (on Assembly GRCh37)

Preferred name:

NM_000527.5(LDLR):c.314C>T (p.Pro105Leu)

HGVS:

• NC_000019.10:g.11105220C>T
• NG_009060.1:g.20840C>T
• NM_000527.5:c.314C>TMANE SELECT
• NM_001195798.2:c.314C>T
• NM_001195799.2:c.191C>T
• NM_001195800.2:c.314-2172C>T
• NM_001195803.2:c.314-1345C>T
• NP_000518.1:p.Pro105Leu
• NP_000518.1:p.Pro105Leu
• NP_001182727.1:p.Pro105Leu
• NP_001182728.1:p.Ser64Phe
• LRG_274t1:c.314C>T
• LRG_274:g.20840C>T
• LRG_274p1:p.Pro105Leu
• NC_000019.9:g.11215896C>T
• NM_000527.4:c.314C>T

This HGVS expression did not pass validation

Protein change:

P105L

Links:

dbSNP: rs730882079

NCBI 1000 Genomes Browser:

rs730882079

Molecular consequence:

• NM_001195800.2:c.314-2172C>T - intron variant - [Sequence Ontology: SO:0001627]
• NM_001195803.2:c.314-1345C>T - intron variant - [Sequence Ontology: SO:0001627]
• NM_000527.5:c.314C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001195798.2:c.314C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001195799.2:c.191C>T - missense variant - [Sequence Ontology: SO:0001583]

Functional consequence:

no known functional consequence - Comment(s)

• non-disruptive missense