ClinVar

NM_000527.5(LDLR):c.1317T>C (p.Asn439=)

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

19p13.2

Genomic location:

• Chr19: 11113408 (on Assembly GRCh38)
• Chr19: 11224084 (on Assembly GRCh37)

Preferred name:

NM_000527.5(LDLR):c.1317T>C (p.Asn439=)

HGVS:

• NC_000019.10:g.11113408T>C
• NG_009060.1:g.29028T>C
• NM_000527.5:c.1317T>CMANE SELECT
• NM_001195798.2:c.1317T>C
• NM_001195799.2:c.1194T>C
• NM_001195800.2:c.813T>C
• NM_001195803.2:c.936T>C
• NP_000518.1:p.Asn439=
• NP_001182727.1:p.Asn439=
• NP_001182728.1:p.Asn398=
• NP_001182729.1:p.Asn271=
• NP_001182732.1:p.Asn312=
• LRG_274:g.29028T>C
• NC_000019.9:g.11224084T>C

This HGVS expression did not pass validation

Links:

dbSNP: rs879254860

NCBI 1000 Genomes Browser:

rs879254860

Molecular consequence:

• NM_000527.5:c.1317T>C - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001195798.2:c.1317T>C - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001195799.2:c.1194T>C - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001195800.2:c.813T>C - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001195803.2:c.936T>C - synonymous variant - [Sequence Ontology: SO:0001819]