ClinVar

NM_000527.5(LDLR):c.2061C>T (p.Ile687=)

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

19p13.2

Genomic location:

• Chr19: 11120443 (on Assembly GRCh38)
• Chr19: 11231119 (on Assembly GRCh37)

Preferred name:

NM_000527.5(LDLR):c.2061C>T (p.Ile687=)

HGVS:

• NC_000019.10:g.11120443C>T
• NG_009060.1:g.36063C>T
• NM_000527.5:c.2061C>TMANE SELECT
• NM_001195798.2:c.2061C>T
• NM_001195799.2:c.1938C>T
• NM_001195800.2:c.1557C>T
• NM_001195803.2:c.1606+210C>T
• NP_000518.1:p.Ile687=
• NP_000518.1:p.Ile687=
• NP_001182727.1:p.Ile687=
• NP_001182728.1:p.Ile646=
• NP_001182729.1:p.Ile519=
• LRG_274t1:c.2061C>T
• LRG_274:g.36063C>T
• LRG_274p1:p.Ile687=
• NC_000019.9:g.11231119C>T
• NM_000527.4:c.2061C>T

This HGVS expression did not pass validation

Molecular consequence:

• NM_001195803.2:c.1606+210C>T - intron variant - [Sequence Ontology: SO:0001627]
• NM_000527.5:c.2061C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001195798.2:c.2061C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001195799.2:c.1938C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001195800.2:c.1557C>T - synonymous variant - [Sequence Ontology: SO:0001819]