ClinVar

NM_182943.3(PLOD2):c.1942C>T (p.Arg648Trp)

Gene:

PLOD2:procollagen-lysine,2-oxoglutarate 5-dioxygenase 2 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

3q24

Genomic location:

• Chr3: 146071330 (on Assembly GRCh38)
• Chr3: 145789117 (on Assembly GRCh37)

Preferred name:

NM_182943.3(PLOD2):c.1942C>T (p.Arg648Trp)

HGVS:

• NC_000003.12:g.146071330G>A
• NG_009251.1:g.95166C>T
• NM_000935.3:c.1879C>T
• NM_182943.2:c.1942C>T
• NM_182943.3:c.1942C>TMANE SELECT
• NP_000926.2:p.Arg627Trp
• NP_000926.2:p.Arg627Trp
• NP_891988.1:p.Arg648Trp
• NC_000003.11:g.145789117G>A
• NM_000935.2:c.1879C>T
• NM_182943.3:c.1942C>T

This HGVS expression did not pass validation

Protein change:

R627W

Links:

dbSNP: rs368177696

NCBI 1000 Genomes Browser:

rs368177696

Molecular consequence:

• NM_000935.3:c.1879C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_182943.3:c.1942C>T - missense variant - [Sequence Ontology: SO:0001583]