ClinVar

NM_000527.5(LDLR):c.1171G>A (p.Ala391Thr)

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

19p13.2

Genomic location:

• Chr19: 11111624 (on Assembly GRCh38)
• Chr19: 11222300 (on Assembly GRCh37)

Preferred name:

NM_000527.5(LDLR):c.1171G>A (p.Ala391Thr)

Other names:

NP_000518.1:p.A391T; NM_000527.5(LDLR):c.1171G>A

HGVS:

• NC_000019.10:g.11111624G>A
• NG_009060.1:g.27244G>A
• NM_000527.5:c.1171G>AMANE SELECT
• NM_001195798.2:c.1171G>A
• NM_001195799.2:c.1048G>A
• NM_001195800.2:c.667G>A
• NM_001195803.2:c.790G>A
• NP_000518.1:p.Ala391Thr
• NP_000518.1:p.Ala391Thr
• NP_001182727.1:p.Ala391Thr
• NP_001182728.1:p.Ala350Thr
• NP_001182729.1:p.Ala223Thr
• NP_001182732.1:p.Ala264Thr
• LRG_274t1:c.1171G>A
• LRG_274:g.27244G>A
• LRG_274p1:p.Ala391Thr
• NC_000019.9:g.11222300G>A
• NM_000527.3:c.1171G>A
• NM_000527.4:c.1171G>A
• P01130:p.Ala391Thr
• c.1171G>A
• p.ALA391THR
• p.Asp391Thr

This HGVS expression did not pass validation

Protein change:

A223T

Links:

LDLR-LOVD, British Heart Foundation: LDLR_001369; UniProtKB: P01130#VAR_024519

Molecular consequence:

• NM_000527.5:c.1171G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001195798.2:c.1171G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001195799.2:c.1048G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001195800.2:c.667G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001195803.2:c.790G>A - missense variant - [Sequence Ontology: SO:0001583]

Functional consequence:

no known functional consequence - Comment(s)

• non-disruptive missense