ClinVar

NM_000527.5(LDLR):c.679G>C (p.Asp227His)

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

19p13.2

Genomic location:

• Chr19: 11105585 (on Assembly GRCh38)
• Chr19: 11216261 (on Assembly GRCh37)

Preferred name:

NM_000527.5(LDLR):c.679G>C (p.Asp227His)

HGVS:

• NC_000019.10:g.11105585G>C
• NG_009060.1:g.21205G>C
• NM_000527.5:c.679G>CMANE SELECT
• NM_001195798.2:c.679G>C
• NM_001195799.2:c.556G>C
• NM_001195800.2:c.314-1807G>C
• NM_001195803.2:c.314-980G>C
• NP_000518.1:p.Asp227His
• NP_001182727.1:p.Asp227His
• NP_001182728.1:p.Asp186His
• LRG_274:g.21205G>C
• NC_000019.9:g.11216261G>C

This HGVS expression did not pass validation

Protein change:

D186H

Links:

dbSNP: rs2077282480

NCBI 1000 Genomes Browser:

rs2077282480

Molecular consequence:

• NM_001195800.2:c.314-1807G>C - intron variant - [Sequence Ontology: SO:0001627]
• NM_001195803.2:c.314-980G>C - intron variant - [Sequence Ontology: SO:0001627]
• NM_000527.5:c.679G>C - missense variant - [Sequence Ontology: SO:0001583]
• NM_001195798.2:c.679G>C - missense variant - [Sequence Ontology: SO:0001583]
• NM_001195799.2:c.556G>C - missense variant - [Sequence Ontology: SO:0001583]

Observations:

2