ClinVar

NM_182943.3(PLOD2):c.815C>T (p.Ser272Leu)

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

3q24

Genomic location:

• Chr3: 146091864 (on Assembly GRCh38)
• Chr3: 145809651 (on Assembly GRCh37)

Preferred name:

NM_182943.3(PLOD2):c.815C>T (p.Ser272Leu)

HGVS:

• NC_000003.12:g.146091864G>A
• NG_009251.1:g.74632C>T
• NM_000935.2:c.815C>T
• NM_000935.3:c.815C>T
• NM_182943.3:c.815C>TMANE SELECT
• NP_000926.2:p.Ser272Leu
• NP_891988.1:p.Ser272Leu
• NC_000003.11:g.145809651G>A

This HGVS expression did not pass validation

Protein change:

S272L

Links:

dbSNP: rs752075592

NCBI 1000 Genomes Browser:

rs752075592

Molecular consequence:

• NM_000935.3:c.815C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_182943.3:c.815C>T - missense variant - [Sequence Ontology: SO:0001583]

Observations:

1