ClinVar

NM_000527.5(LDLR):c.1323C>T (p.Ile441=)

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

19p13.2

Genomic location:

• Chr19: 11113414 (on Assembly GRCh38)
• Chr19: 11224090 (on Assembly GRCh37)

Preferred name:

NM_000527.5(LDLR):c.1323C>T (p.Ile441=)

Other names:

NM_000527.4(LDLR):c.1323C>T; p.Ile441=

HGVS:

• NC_000019.10:g.11113414C>T
• NG_009060.1:g.29034C>T
• NM_000527.5:c.1323C>TMANE SELECT
• NM_001195798.2:c.1323C>T
• NM_001195799.2:c.1200C>T
• NM_001195800.2:c.819C>T
• NM_001195803.2:c.942C>T
• NP_000518.1:p.Ile441=
• NP_000518.1:p.Ile441=
• NP_001182727.1:p.Ile441=
• NP_001182728.1:p.Ile400=
• NP_001182729.1:p.Ile273=
• NP_001182732.1:p.Ile314=
• LRG_274t1:c.1323C>T
• LRG_274:g.29034C>T
• LRG_274p1:p.Ile441=
• NC_000019.9:g.11224090C>T
• NM_000527.4:c.1323C>T

This HGVS expression did not pass validation

Links:

dbSNP: rs5933

NCBI 1000 Genomes Browser:

rs5933

Molecular consequence:

• NM_000527.5:c.1323C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001195798.2:c.1323C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001195799.2:c.1200C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001195800.2:c.819C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001195803.2:c.942C>T - synonymous variant - [Sequence Ontology: SO:0001819]