ClinVar

NM_000527.5(LDLR):c.2177C>T (p.Thr726Ile)

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

19p13.2

Genomic location:

• Chr19: 11123210 (on Assembly GRCh38)
• Chr19: 11233886 (on Assembly GRCh37)

Preferred name:

NM_000527.5(LDLR):c.2177C>T (p.Thr726Ile)

Other names:

FH Paris-9; NM_000527.5(LDLR):c.2177C>T

HGVS:

• NC_000019.10:g.11123210C>T
• NG_009060.1:g.38830C>T
• NM_000527.5:c.2177C>TMANE SELECT
• NM_001195798.2:c.2177C>T
• NM_001195799.2:c.2054C>T
• NM_001195800.2:c.1673C>T
• NM_001195803.2:c.1643C>T
• NP_000518.1:p.Thr726Ile
• NP_000518.1:p.Thr726Ile
• NP_001182727.1:p.Thr726Ile
• NP_001182728.1:p.Thr685Ile
• NP_001182729.1:p.Thr558Ile
• NP_001182732.1:p.Thr548Ile
• LRG_274t1:c.2177C>T
• LRG_274:g.38830C>T
• LRG_274p1:p.Thr726Ile
• NC_000019.9:g.11233886C>T
• NM_000527.4:c.2177C>T
• P01130:p.Thr726Ile
• c.2177C>T

This HGVS expression did not pass validation

Protein change:

T548I

Links:

LDLR-LOVD, British Heart Foundation: LDLR_001613; UniProtKB: P01130#VAR_005413

Molecular consequence:

• NM_000527.5:c.2177C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001195798.2:c.2177C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001195799.2:c.2054C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001195800.2:c.1673C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001195803.2:c.1643C>T - missense variant - [Sequence Ontology: SO:0001583]

Functional consequence:

no known functional consequence - Comment(s)

• non-disruptive missense

Observations:

23