ClinVar

NM_000527.5(LDLR):c.1747C>T (p.His583Tyr)

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

19p13.2

Genomic location:

• Chr19: 11116900 (on Assembly GRCh38)
• Chr19: 11227576 (on Assembly GRCh37)

Preferred name:

NM_000527.5(LDLR):c.1747C>T (p.His583Tyr)

Other names:

p.H583Y:CAC>TAC; NP_000518.1:p.H583Y

HGVS:

• NC_000019.10:g.11116900C>T
• NG_009060.1:g.32520C>T
• NM_000527.5:c.1747C>TMANE SELECT
• NM_001195798.2:c.1747C>T
• NM_001195799.2:c.1624C>T
• NM_001195800.2:c.1243C>T
• NM_001195803.2:c.1366C>T
• NP_000518.1:p.His583Tyr
• NP_000518.1:p.His583Tyr
• NP_001182727.1:p.His583Tyr
• NP_001182728.1:p.His542Tyr
• NP_001182729.1:p.His415Tyr
• NP_001182732.1:p.His456Tyr
• LRG_274t1:c.1747C>T
• LRG_274:g.32520C>T
• LRG_274p1:p.His583Tyr
• NC_000019.9:g.11227576C>T
• NM_000527.4:c.1747C>T
• c.1747C>T

This HGVS expression did not pass validation

Protein change:

H415Y

Links:

LDLR-LOVD, British Heart Foundation: LDLR_000234; dbSNP: rs730882109

NCBI 1000 Genomes Browser:

rs730882109

Molecular consequence:

• NM_000527.5:c.1747C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001195798.2:c.1747C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001195799.2:c.1624C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001195800.2:c.1243C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001195803.2:c.1366C>T - missense variant - [Sequence Ontology: SO:0001583]

Observations:

1