ClinVar

NM_000527.5(LDLR):c.1422G>T (p.Gln474His)

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

19p13.2

Genomic location:

• Chr19: 11113598 (on Assembly GRCh38)
• Chr19: 11224274 (on Assembly GRCh37)

Preferred name:

NM_000527.5(LDLR):c.1422G>T (p.Gln474His)

HGVS:

• NC_000019.10:g.11113598G>T
• NG_009060.1:g.29218G>T
• NM_000527.5:c.1422G>TMANE SELECT
• NM_001195798.2:c.1422G>T
• NM_001195799.2:c.1299G>T
• NM_001195800.2:c.918G>T
• NM_001195803.2:c.1041G>T
• NP_000518.1:p.Gln474His
• NP_001182727.1:p.Gln474His
• NP_001182728.1:p.Gln433His
• NP_001182729.1:p.Gln306His
• NP_001182732.1:p.Gln347His
• LRG_274:g.29218G>T
• NC_000019.9:g.11224274G>T

This HGVS expression did not pass validation

Protein change:

Q306H

Links:

dbSNP: rs2147248583

NCBI 1000 Genomes Browser:

rs2147248583

Molecular consequence:

• NM_000527.5:c.1422G>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001195798.2:c.1422G>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001195799.2:c.1299G>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001195800.2:c.918G>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001195803.2:c.1041G>T - missense variant - [Sequence Ontology: SO:0001583]