ClinVar

NM_000527.5(LDLR):c.1061-8T>C

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

19p13.2

Genomic location:

• Chr19: 11111506 (on Assembly GRCh38)
• Chr19: 11222182 (on Assembly GRCh37)

Preferred name:

NM_000527.5(LDLR):c.1061-8T>C

Other names:

IVS7 as T-C -8; .

HGVS:

• NC_000019.10:g.11111506T>C
• NG_009060.1:g.27126T>C
• NM_000527.5:c.1061-8T>CMANE SELECT
• NM_001195798.2:c.1061-8T>C
• NM_001195799.2:c.938-8T>C
• NM_001195800.2:c.557-8T>C
• NM_001195803.2:c.680-8T>C
• LRG_274t1:c.1061-8T>C
• LRG_274:g.27126T>C
• NC_000019.9:g.11222182T>C
• NM_000527.4:c.1061-8T>C
• NM_001195803.1:c.680-8T>C
• c.1061-8T>C

This HGVS expression did not pass validation

Links:

LDLR-LOVD, British Heart Foundation: LDLR_000154;

Molecular consequence:

• NM_000527.5:c.1061-8T>C - intron variant - [Sequence Ontology: SO:0001627]
• NM_001195798.2:c.1061-8T>C - intron variant - [Sequence Ontology: SO:0001627]
• NM_001195799.2:c.938-8T>C - intron variant - [Sequence Ontology: SO:0001627]
• NM_001195800.2:c.557-8T>C - intron variant - [Sequence Ontology: SO:0001627]
• NM_001195803.2:c.680-8T>C - intron variant - [Sequence Ontology: SO:0001627]

Observations:

27