ClinVar

NM_000527.5(LDLR):c.1863A>C (p.Thr621=)

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

19p13.2

Genomic location:

• Chr19: 11120109 (on Assembly GRCh38)
• Chr19: 11230785 (on Assembly GRCh37)

Preferred name:

NM_000527.5(LDLR):c.1863A>C (p.Thr621=)

HGVS:

• NC_000019.10:g.11120109A>C
• NG_009060.1:g.35729A>C
• NM_000527.5:c.1863A>CMANE SELECT
• NM_001195798.2:c.1863A>C
• NM_001195799.2:c.1740A>C
• NM_001195800.2:c.1359A>C
• NM_001195803.2:c.1482A>C
• NP_000518.1:p.Thr621=
• NP_000518.1:p.Thr621=
• NP_001182727.1:p.Thr621=
• NP_001182728.1:p.Thr580=
• NP_001182729.1:p.Thr453=
• NP_001182732.1:p.Thr494=
• LRG_274t1:c.1863A>C
• LRG_274:g.35729A>C
• LRG_274p1:p.Thr621=
• NC_000019.9:g.11230785A>C
• NM_000527.4:c.1863A>C

This HGVS expression did not pass validation

Links:

dbSNP: rs768509914

NCBI 1000 Genomes Browser:

rs768509914

Molecular consequence:

• NM_000527.5:c.1863A>C - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001195798.2:c.1863A>C - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001195799.2:c.1740A>C - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001195800.2:c.1359A>C - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001195803.2:c.1482A>C - synonymous variant - [Sequence Ontology: SO:0001819]