ClinVar

NM_000527.5(LDLR):c.1188C>T (p.Gly396=)

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

19p13.2

Genomic location:

• Chr19: 11113279 (on Assembly GRCh38)
• Chr19: 11223955 (on Assembly GRCh37)

Preferred name:

NM_000527.5(LDLR):c.1188C>T (p.Gly396=)

HGVS:

• NC_000019.10:g.11113279C>T
• NG_009060.1:g.28899C>T
• NM_000527.5:c.1188C>TMANE SELECT
• NM_001195798.2:c.1188C>T
• NM_001195799.2:c.1065C>T
• NM_001195800.2:c.684C>T
• NM_001195803.2:c.807C>T
• NP_000518.1:p.Gly396=
• NP_001182727.1:p.Gly396=
• NP_001182728.1:p.Gly355=
• NP_001182729.1:p.Gly228=
• NP_001182732.1:p.Gly269=
• LRG_274t1:c.1188C>T
• LRG_274:g.28899C>T
• NC_000019.9:g.11223955C>T
• NC_000019.9:g.11223955C>T
• NM_000527.4:c.1188C>T

This HGVS expression did not pass validation

Links:

dbSNP: rs751734809

NCBI 1000 Genomes Browser:

rs751734809

Molecular consequence:

• NM_000527.5:c.1188C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001195798.2:c.1188C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001195799.2:c.1065C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001195800.2:c.684C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001195803.2:c.807C>T - synonymous variant - [Sequence Ontology: SO:0001819]