ClinVar

NM_000527.5(LDLR):c.796_800del (p.Asp266fs)

Gene:

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

Variant type:

Deletion

Cytogenetic location:

19p13.2

Genomic location:

• Chr19: 11106666 - 11106670 (on Assembly GRCh38)
• Chr19: 11217342 - 11217346 (on Assembly GRCh37)

Preferred name:

NM_000527.5(LDLR):c.796_800del (p.Asp266fs)

HGVS:

• NC_000019.10:g.11106666_11106670del
• NG_009060.1:g.22286_22290del
• NM_000527.5:c.796_800delMANE SELECT
• NM_001195798.2:c.796_800del
• NM_001195799.2:c.673_677del
• NM_001195800.2:c.314-726_314-722del
• NM_001195803.2:c.415_419del
• NP_000518.1:p.Asp266fs
• NP_000518.1:p.Asp266fs
• NP_001182727.1:p.Asp266fs
• NP_001182728.1:p.Asp225fs
• NP_001182732.1:p.Asp139fs
• LRG_274t1:c.796_800del
• LRG_274:g.22286_22290del
• LRG_274p1:p.Asp266fs
• NC_000019.9:g.11217342_11217346del
• NM_000527.4:c.796_800del

This HGVS expression did not pass validation

Protein change:

D139fs

Links:

dbSNP: rs1555803701

NCBI 1000 Genomes Browser:

rs1555803701

Molecular consequence:

• NM_000527.5:c.796_800del - frameshift variant - [Sequence Ontology: SO:0001589]
• NM_001195798.2:c.796_800del - frameshift variant - [Sequence Ontology: SO:0001589]
• NM_001195799.2:c.673_677del - frameshift variant - [Sequence Ontology: SO:0001589]
• NM_001195803.2:c.415_419del - frameshift variant - [Sequence Ontology: SO:0001589]
• NM_001195800.2:c.314-726_314-722del - intron variant - [Sequence Ontology: SO:0001627]