ClinVar

NM_000527.5(LDLR):c.1836C>T (p.Ala612=)

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

19p13.2

Genomic location:

• Chr19: 11116989 (on Assembly GRCh38)
• Chr19: 11227665 (on Assembly GRCh37)

Preferred name:

NM_000527.5(LDLR):c.1836C>T (p.Ala612=)

Other names:

NM_000527.5(LDLR):c.1836C>T; p.Ala612=

HGVS:

• NC_000019.10:g.11116989C>T
• NG_009060.1:g.32609C>T
• NM_000527.5:c.1836C>TMANE SELECT
• NM_001195798.2:c.1836C>T
• NM_001195799.2:c.1713C>T
• NM_001195800.2:c.1332C>T
• NM_001195803.2:c.1455C>T
• NP_000518.1:p.Ala612=
• NP_000518.1:p.Ala612=
• NP_001182727.1:p.Ala612=
• NP_001182728.1:p.Ala571=
• NP_001182729.1:p.Ala444=
• NP_001182732.1:p.Ala485=
• LRG_274t1:c.1836C>T
• LRG_274:g.32609C>T
• LRG_274p1:p.Ala612=
• NC_000019.9:g.11227665C>T
• NM_000527.4:c.1836C>T
• c.1836C>T
• p.Ala612Ala

This HGVS expression did not pass validation

Links:

LDLR-LOVD, British Heart Foundation: LDLR_000249; dbSNP: rs143872778

NCBI 1000 Genomes Browser:

rs143872778

Molecular consequence:

• NM_000527.5:c.1836C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001195798.2:c.1836C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001195799.2:c.1713C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001195800.2:c.1332C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001195803.2:c.1455C>T - synonymous variant - [Sequence Ontology: SO:0001819]

Observations:

4