ClinVar

NM_000527.5(LDLR):c.2052C>T (p.Ala684=)

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

19p13.2

Genomic location:

• Chr19: 11120434 (on Assembly GRCh38)
• Chr19: 11231110 (on Assembly GRCh37)

Preferred name:

NM_000527.5(LDLR):c.2052C>T (p.Ala684=)

HGVS:

• NC_000019.10:g.11120434C>T
• NG_009060.1:g.36054C>T
• NM_000527.5:c.2052C>TMANE SELECT
• NM_001195798.2:c.2052C>T
• NM_001195799.2:c.1929C>T
• NM_001195800.2:c.1548C>T
• NM_001195803.2:c.1606+201C>T
• NP_000518.1:p.Ala684=
• NP_001182727.1:p.Ala684=
• NP_001182728.1:p.Ala643=
• NP_001182729.1:p.Ala516=
• LRG_274:g.36054C>T
• NC_000019.9:g.11231110C>T

This HGVS expression did not pass validation

Links:

dbSNP: rs760034984

NCBI 1000 Genomes Browser:

rs760034984

Molecular consequence:

• NM_001195803.2:c.1606+201C>T - intron variant - [Sequence Ontology: SO:0001627]
• NM_000527.5:c.2052C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001195798.2:c.2052C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001195799.2:c.1929C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001195800.2:c.1548C>T - synonymous variant - [Sequence Ontology: SO:0001819]