ClinVar

NM_000527.5(LDLR):c.432G>C (p.Pro144=)

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

19p13.2

Genomic location:

• Chr19: 11105338 (on Assembly GRCh38)
• Chr19: 11216014 (on Assembly GRCh37)

Preferred name:

NM_000527.5(LDLR):c.432G>C (p.Pro144=)

HGVS:

• NC_000019.10:g.11105338G>C
• NG_009060.1:g.20958G>C
• NM_000527.5:c.432G>CMANE SELECT
• NM_001195798.2:c.432G>C
• NM_001195799.2:c.309G>C
• NM_001195800.2:c.314-2054G>C
• NM_001195803.2:c.314-1227G>C
• NP_000518.1:p.Pro144=
• NP_001182727.1:p.Pro144=
• NP_001182728.1:p.Pro103=
• LRG_274t1:c.432G>C
• LRG_274:g.20958G>C
• NC_000019.9:g.11216014G>C
• NM_000527.4:c.432G>C

This HGVS expression did not pass validation

Links:

dbSNP: rs769228052

NCBI 1000 Genomes Browser:

rs769228052

Molecular consequence:

• NM_001195800.2:c.314-2054G>C - intron variant - [Sequence Ontology: SO:0001627]
• NM_001195803.2:c.314-1227G>C - intron variant - [Sequence Ontology: SO:0001627]
• NM_000527.5:c.432G>C - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001195798.2:c.432G>C - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001195799.2:c.309G>C - synonymous variant - [Sequence Ontology: SO:0001819]

Observations:

1