ClinVar

NM_000527.5(LDLR):c.1980G>C (p.Gln660His)

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

19p13.2

Genomic location:

• Chr19: 11120226 (on Assembly GRCh38)
• Chr19: 11230902 (on Assembly GRCh37)

Preferred name:

NM_000527.5(LDLR):c.1980G>C (p.Gln660His)

HGVS:

• NC_000019.10:g.11120226G>C
• NG_009060.1:g.35846G>C
• NM_000527.5:c.1980G>CMANE SELECT
• NM_001195798.2:c.1980G>C
• NM_001195799.2:c.1857G>C
• NM_001195800.2:c.1476G>C
• NM_001195803.2:c.1599G>C
• NP_000518.1:p.Gln660His
• NP_001182727.1:p.Gln660His
• NP_001182728.1:p.Gln619His
• NP_001182729.1:p.Gln492His
• NP_001182732.1:p.Gln533His
• LRG_274t1:c.1980G>C
• LRG_274:g.35846G>C
• NC_000019.9:g.11230902G>C
• NM_000527.4:c.1980G>C

This HGVS expression did not pass validation

Protein change:

Q492H

Links:

dbSNP: rs1382517876

NCBI 1000 Genomes Browser:

rs1382517876

Molecular consequence:

• NM_000527.5:c.1980G>C - missense variant - [Sequence Ontology: SO:0001583]
• NM_001195798.2:c.1980G>C - missense variant - [Sequence Ontology: SO:0001583]
• NM_001195799.2:c.1857G>C - missense variant - [Sequence Ontology: SO:0001583]
• NM_001195800.2:c.1476G>C - missense variant - [Sequence Ontology: SO:0001583]
• NM_001195803.2:c.1599G>C - missense variant - [Sequence Ontology: SO:0001583]