ClinVar

NM_002335.4(LRP5):c.1968C>T (p.His656=)

Gene:

LRP5:LDL receptor related protein 5 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

11q13.2

Genomic location:

• Chr11: 68406690 (on Assembly GRCh38)
• Chr11: 68174158 (on Assembly GRCh37)

Preferred name:

NM_002335.4(LRP5):c.1968C>T (p.His656=)

HGVS:

• NC_000011.10:g.68406690C>T
• NG_015835.2:g.99051C>T
• NM_001291902.2:c.225C>T
• NM_002335.4:c.1968C>TMANE SELECT
• NP_001278831.1:p.His75=
• NP_002326.2:p.His656=
• NC_000011.9:g.68174158C>T
• NG_015835.1:g.99051C>T
• NM_002335.2:c.1968C>T
• NM_002335.3:c.1968C>T

This HGVS expression did not pass validation

Links:

dbSNP: rs144847027

NCBI 1000 Genomes Browser:

rs144847027

Molecular consequence:

• NM_001291902.2:c.225C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_002335.4:c.1968C>T - synonymous variant - [Sequence Ontology: SO:0001819]

Observations:

1