ClinVar

NM_000302.4(PLOD1):c.2060G>A (p.Cys687Tyr)

Gene:

PLOD1:procollagen-lysine,2-oxoglutarate 5-dioxygenase 1 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

1p36.22

Genomic location:

• Chr1: 11974684 (on Assembly GRCh38)
• Chr1: 12034741 (on Assembly GRCh37)

Preferred name:

NM_000302.4(PLOD1):c.2060G>A (p.Cys687Tyr)

HGVS:

• NC_000001.11:g.11974684G>A
• NG_008159.1:g.44996G>A
• NM_000302.4:c.2060G>AMANE SELECT
• NM_001316320.2:c.2201G>A
• NP_000293.2:p.Cys687Tyr
• NP_001303249.1:p.Cys734Tyr
• NC_000001.10:g.12034741G>A

This HGVS expression did not pass validation

Protein change:

C687Y

Links:

dbSNP: rs2100768765

NCBI 1000 Genomes Browser:

rs2100768765

Molecular consequence:

• NM_000302.4:c.2060G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001316320.2:c.2201G>A - missense variant - [Sequence Ontology: SO:0001583]

Observations:

1