ClinVar

NM_002335.4(LRP5):c.1304C>T (p.Thr435Met)

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

11q13.2

Genomic location:

• Chr11: 68386604 (on Assembly GRCh38)
• Chr11: 68154072 (on Assembly GRCh37)

Preferred name:

NM_002335.4(LRP5):c.1304C>T (p.Thr435Met)

HGVS:

• NC_000011.10:g.68386604C>T
• NG_015835.2:g.78965C>T
• NM_001291902.2:c.-462C>T
• NM_002335.4:c.1304C>TMANE SELECT
• NP_002326.2:p.Thr435Met
• NC_000011.9:g.68154072C>T
• NC_000011.9:g.68154072C>T
• NG_015835.1:g.78965C>T
• NM_002335.2:c.1304C>T

This HGVS expression did not pass validation

Protein change:

T435M

Links:

dbSNP: rs777314081

NCBI 1000 Genomes Browser:

rs777314081

Molecular consequence:

• NM_001291902.2:c.-462C>T - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
• NM_002335.4:c.1304C>T - missense variant - [Sequence Ontology: SO:0001583]