ClinVar

NM_000527.5(LDLR):c.2247C>T (p.Thr749=)

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

19p13.2

Genomic location:

• Chr19: 11123280 (on Assembly GRCh38)
• Chr19: 11233956 (on Assembly GRCh37)

Preferred name:

NM_000527.5(LDLR):c.2247C>T (p.Thr749=)

HGVS:

• NC_000019.10:g.11123280C>T
• NG_009060.1:g.38900C>T
• NM_000527.5:c.2247C>TMANE SELECT
• NM_001195798.2:c.2247C>T
• NM_001195799.2:c.2124C>T
• NM_001195800.2:c.1743C>T
• NM_001195803.2:c.1713C>T
• NP_000518.1:p.Thr749=
• NP_001182727.1:p.Thr749=
• NP_001182728.1:p.Thr708=
• NP_001182729.1:p.Thr581=
• NP_001182732.1:p.Thr571=
• LRG_274:g.38900C>T
• NC_000019.9:g.11233956C>T

This HGVS expression did not pass validation

Links:

dbSNP: rs2077586087

NCBI 1000 Genomes Browser:

rs2077586087

Molecular consequence:

• NM_000527.5:c.2247C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001195798.2:c.2247C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001195799.2:c.2124C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001195800.2:c.1743C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001195803.2:c.1713C>T - synonymous variant - [Sequence Ontology: SO:0001819]