ClinVar

NM_000527.5(LDLR):c.1951G>A (p.Asp651Asn)

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

19p13.2

Genomic location:

• Chr19: 11120197 (on Assembly GRCh38)
• Chr19: 11230873 (on Assembly GRCh37)

Preferred name:

NM_000527.5(LDLR):c.1951G>A (p.Asp651Asn)

Other names:

NM_000527.5(LDLR):c.1951G>A

HGVS:

• NC_000019.10:g.11120197G>A
• NG_009060.1:g.35817G>A
• NM_000527.5:c.1951G>AMANE SELECT
• NM_001195798.2:c.1951G>A
• NM_001195799.2:c.1828G>A
• NM_001195800.2:c.1447G>A
• NM_001195803.2:c.1570G>A
• NP_000518.1:p.Asp651Asn
• NP_000518.1:p.Asp651Asn
• NP_001182727.1:p.Asp651Asn
• NP_001182728.1:p.Asp610Asn
• NP_001182729.1:p.Asp483Asn
• NP_001182732.1:p.Asp524Asn
• LRG_274t1:c.1951G>A
• LRG_274:g.35817G>A
• LRG_274p1:p.Asp651Asn
• NC_000019.9:g.11230873G>A
• NM_000527.4:c.1951G>A
• c.1951G>A

This HGVS expression did not pass validation

Protein change:

D483N

Links:

LDLR-LOVD, British Heart Foundation: LDLR_000851; dbSNP: rs730882110

NCBI 1000 Genomes Browser:

rs730882110

Molecular consequence:

• NM_000527.5:c.1951G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001195798.2:c.1951G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001195799.2:c.1828G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001195800.2:c.1447G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001195803.2:c.1570G>A - missense variant - [Sequence Ontology: SO:0001583]

Functional consequence:

no known functional consequence - Comment(s)

• non-disruptive missense

Observations:

1