ClinVar

NM_000527.5(LDLR):c.2500del (p.Asp834fs)

Gene:

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

Variant type:

Deletion

Cytogenetic location:

19p13.2

Genomic location:

• Chr19: 11129622 (on Assembly GRCh38)
• Chr19: 11240298 (on Assembly GRCh37)

Preferred name:

NM_000527.5(LDLR):c.2500del (p.Asp834fs)

HGVS:

• NC_000019.10:g.11129623del
• NG_009060.1:g.45243del
• NM_000527.5:c.2500delMANE SELECT
• NM_001195798.2:c.2500del
• NM_001195799.2:c.2377del
• NM_001195800.2:c.1996del
• NM_001195803.2:c.1966del
• NP_000518.1:p.Asp834fs
• NP_000518.1:p.Asp834fs
• NP_001182727.1:p.Asp834fs
• NP_001182728.1:p.Asp793fs
• NP_001182729.1:p.Asp666fs
• NP_001182732.1:p.Asp656fs
• LRG_274t1:c.2500del
• LRG_274:g.45243del
• LRG_274p1:p.Asp834fs
• NC_000019.9:g.11240298del
• NC_000019.9:g.11240299del
• NM_000527.4:c.2500del
• NM_000527.4:c.2500delG

This HGVS expression did not pass validation

Protein change:

D656fs

Links:

dbSNP: rs1555809594

NCBI 1000 Genomes Browser:

rs1555809594

Molecular consequence:

• NM_000527.5:c.2500del - frameshift variant - [Sequence Ontology: SO:0001589]
• NM_001195798.2:c.2500del - frameshift variant - [Sequence Ontology: SO:0001589]
• NM_001195799.2:c.2377del - frameshift variant - [Sequence Ontology: SO:0001589]
• NM_001195800.2:c.1996del - frameshift variant - [Sequence Ontology: SO:0001589]
• NM_001195803.2:c.1966del - frameshift variant - [Sequence Ontology: SO:0001589]