ClinVar

NM_000527.5(LDLR):c.2138del (p.Thr713fs)

Gene:

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

Variant type:

Deletion

Cytogenetic location:

19p13.2

Genomic location:

• Chr19: 11120520 (on Assembly GRCh38)
• Chr19: 11231196 (on Assembly GRCh37)

Preferred name:

NM_000527.5(LDLR):c.2138del (p.Thr713fs)

HGVS:

• NC_000019.10:g.11120520del
• NG_009060.1:g.36140del
• NM_000527.5:c.2138delMANE SELECT
• NM_001195798.2:c.2138del
• NM_001195799.2:c.2015del
• NM_001195800.2:c.1634del
• NM_001195803.2:c.1606+287del
• NP_000518.1:p.Thr713fs
• NP_000518.1:p.Thr713fs
• NP_001182727.1:p.Thr713fs
• NP_001182728.1:p.Thr672fs
• NP_001182729.1:p.Thr545fs
• LRG_274t1:c.2138del
• LRG_274:g.36140del
• LRG_274p1:p.Thr713fs
• NC_000019.9:g.11231196del
• NM_000527.4:c.2138del

This HGVS expression did not pass validation

Protein change:

T545fs

Links:

dbSNP: rs1257344396

NCBI 1000 Genomes Browser:

rs1257344396

Molecular consequence:

• NM_000527.5:c.2138del - frameshift variant - [Sequence Ontology: SO:0001589]
• NM_001195798.2:c.2138del - frameshift variant - [Sequence Ontology: SO:0001589]
• NM_001195799.2:c.2015del - frameshift variant - [Sequence Ontology: SO:0001589]
• NM_001195800.2:c.1634del - frameshift variant - [Sequence Ontology: SO:0001589]
• NM_001195803.2:c.1606+287del - intron variant - [Sequence Ontology: SO:0001627]

Observations:

1