ClinVar

NM_000302.4(PLOD1):c.303C>T (p.Ser101=)

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

1p36.22

Genomic location:

• Chr1: 11950357 (on Assembly GRCh38)
• Chr1: 12010414 (on Assembly GRCh37)

Preferred name:

NM_000302.4(PLOD1):c.303C>T (p.Ser101=)

HGVS:

• NC_000001.11:g.11950357C>T
• NG_008159.1:g.20669C>T
• NM_000302.4:c.303C>TMANE SELECT
• NM_001316320.2:c.444C>T
• NP_000293.2:p.Ser101=
• NP_001303249.1:p.Ser148=
• NC_000001.10:g.12010414C>T
• NM_000302.3:c.303C>T

This HGVS expression did not pass validation

Links:

dbSNP: rs147980436

NCBI 1000 Genomes Browser:

rs147980436

Molecular consequence:

• NM_000302.4:c.303C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001316320.2:c.444C>T - synonymous variant - [Sequence Ontology: SO:0001819]

Observations:

2