ClinVar

NM_000527.5(LDLR):c.948C>T (p.Asn316=)

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

19p13.2

Genomic location:

• Chr19: 11110659 (on Assembly GRCh38)
• Chr19: 11221335 (on Assembly GRCh37)

Preferred name:

NM_000527.5(LDLR):c.948C>T (p.Asn316=)

HGVS:

• NC_000019.10:g.11110659C>T
• NG_009060.1:g.26279C>T
• NM_000527.5:c.948C>TMANE SELECT
• NM_001195798.2:c.948C>T
• NM_001195799.2:c.825C>T
• NM_001195800.2:c.444C>T
• NM_001195803.2:c.567C>T
• NP_000518.1:p.Asn316=
• NP_000518.1:p.Asn316=
• NP_001182727.1:p.Asn316=
• NP_001182728.1:p.Asn275=
• NP_001182729.1:p.Asn148=
• NP_001182732.1:p.Asn189=
• LRG_274t1:c.948C>T
• LRG_274:g.26279C>T
• LRG_274p1:p.Asn316=
• NC_000019.9:g.11221335C>T
• NM_000527.4:c.948C>T

This HGVS expression did not pass validation

Links:

dbSNP: rs780673258

NCBI 1000 Genomes Browser:

rs780673258

Molecular consequence:

• NM_000527.5:c.948C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001195798.2:c.948C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001195799.2:c.825C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001195800.2:c.444C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001195803.2:c.567C>T - synonymous variant - [Sequence Ontology: SO:0001819]

Observations:

3