ClinVar

NM_000527.5(LDLR):c.2088C>T (p.Cys696=)

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

19p13.2

Genomic location:

• Chr19: 11120470 (on Assembly GRCh38)
• Chr19: 11231146 (on Assembly GRCh37)

Preferred name:

NM_000527.5(LDLR):c.2088C>T (p.Cys696=)

HGVS:

• NC_000019.10:g.11120470C>T
• NG_009060.1:g.36090C>T
• NM_000527.5:c.2088C>TMANE SELECT
• NM_001195798.2:c.2088C>T
• NM_001195799.2:c.1965C>T
• NM_001195800.2:c.1584C>T
• NM_001195803.2:c.1606+237C>T
• NP_000518.1:p.Cys696=
• NP_000518.1:p.Cys696=
• NP_001182727.1:p.Cys696=
• NP_001182728.1:p.Cys655=
• NP_001182729.1:p.Cys528=
• LRG_274t1:c.2088C>T
• LRG_274:g.36090C>T
• LRG_274p1:p.Cys696=
• NC_000019.9:g.11231146C>T
• NM_000527.4:c.2088C>T

This HGVS expression did not pass validation

Links:

dbSNP: rs112954220

NCBI 1000 Genomes Browser:

rs112954220

Molecular consequence:

• NM_001195803.2:c.1606+237C>T - intron variant - [Sequence Ontology: SO:0001627]
• NM_000527.5:c.2088C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001195798.2:c.2088C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001195799.2:c.1965C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001195800.2:c.1584C>T - synonymous variant - [Sequence Ontology: SO:0001819]

Observations:

2