ClinVar

NM_182943.3(PLOD2):c.801C>A (p.Asn267Lys)

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

3q24

Genomic location:

• Chr3: 146091878 (on Assembly GRCh38)
• Chr3: 145809665 (on Assembly GRCh37)

Preferred name:

NM_182943.3(PLOD2):c.801C>A (p.Asn267Lys)

HGVS:

• NC_000003.12:g.146091878G>T
• NG_009251.1:g.74618C>A
• NM_000935.3:c.801C>A
• NM_182943.3:c.801C>AMANE SELECT
• NP_000926.2:p.Asn267Lys
• NP_891988.1:p.Asn267Lys
• NC_000003.11:g.145809665G>T
• NM_182943.2:c.801C>A

This HGVS expression did not pass validation

Protein change:

N267K

Links:

dbSNP: rs771710305

NCBI 1000 Genomes Browser:

rs771710305

Molecular consequence:

• NM_000935.3:c.801C>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_182943.3:c.801C>A - missense variant - [Sequence Ontology: SO:0001583]

Observations:

1