ClinVar

NM_000527.5(LDLR):c.1061-1G>T

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

19p13.2

Genomic location:

• Chr19: 11111513 (on Assembly GRCh38)
• Chr19: 11222189 (on Assembly GRCh37)

Preferred name:

NM_000527.5(LDLR):c.1061-1G>T

HGVS:

• NC_000019.10:g.11111513G>T
• NG_009060.1:g.27133G>T
• NM_000527.5:c.1061-1G>TMANE SELECT
• NM_001195798.2:c.1061-1G>T
• NM_001195799.2:c.938-1G>T
• NM_001195800.2:c.557-1G>T
• NM_001195803.2:c.680-1G>T
• LRG_274t1:c.1061-1G>T
• LRG_274:g.27133G>T
• NC_000019.9:g.11222189G>T
• NM_000527.4:c.1061-1G>T
• p.(?)

This HGVS expression did not pass validation

Links:

dbSNP: rs879254774

NCBI 1000 Genomes Browser:

rs879254774

Molecular consequence:

• NM_000527.5:c.1061-1G>T - splice acceptor variant - [Sequence Ontology: SO:0001574]
• NM_001195798.2:c.1061-1G>T - splice acceptor variant - [Sequence Ontology: SO:0001574]
• NM_001195799.2:c.938-1G>T - splice acceptor variant - [Sequence Ontology: SO:0001574]
• NM_001195800.2:c.557-1G>T - splice acceptor variant - [Sequence Ontology: SO:0001574]
• NM_001195803.2:c.680-1G>T - splice acceptor variant - [Sequence Ontology: SO:0001574]

Observations:

1