ClinVar

NM_022356.4(P3H1):c.2028C>T (p.Phe676=)

Gene:

P3H1:prolyl 3-hydroxylase 1 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

1p34.2

Genomic location:

• Chr1: 42747299 (on Assembly GRCh38)
• Chr1: 43212970 (on Assembly GRCh37)

Preferred name:

NM_022356.4(P3H1):c.2028C>T (p.Phe676=)

HGVS:

• NC_000001.11:g.42747299G>A
• NG_008123.1:g.24786C>T
• NM_001146289.2:c.2028C>T
• NM_001243246.2:c.2028C>T
• NM_022356.4:c.2028C>TMANE SELECT
• NP_001139761.1:p.Phe676=
• NP_001139761.1:p.Phe676=
• NP_001230175.1:p.Phe676=
• NP_001230175.1:p.Phe676=
• NP_071751.2:p.Phe676=
• NP_071751.3:p.Phe676=
• NP_071751.3:p.Phe676=
• LRG_5t1:c.2028C>T
• LRG_5t2:c.2028C>T
• LRG_5t3:c.2028C>T
• LRG_5:g.24786C>T
• LRG_5p1:p.Phe676=
• LRG_5p2:p.Phe676=
• LRG_5p3:p.Phe676=
• NC_000001.10:g.43212970G>A
• NM_001146289.1:c.2028C>T
• NM_001243246.1:c.2028C>T
• NM_022356.2:c.2028C>T
• NM_022356.3:c.2028C>T

This HGVS expression did not pass validation

Molecular consequence:

• NM_001146289.2:c.2028C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001243246.2:c.2028C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_022356.4:c.2028C>T - synonymous variant - [Sequence Ontology: SO:0001819]