ClinVar

NM_022356.4(P3H1):c.1626G>A (p.Thr542=)

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

1p34.2

Genomic location:

• Chr1: 42750280 (on Assembly GRCh38)
• Chr1: 43215951 (on Assembly GRCh37)

Preferred name:

NM_022356.4(P3H1):c.1626G>A (p.Thr542=)

HGVS:

• NC_000001.11:g.42750280C>T
• NG_008123.1:g.21805G>A
• NM_001146289.2:c.1626G>A
• NM_001243246.2:c.1626G>A
• NM_022356.4:c.1626G>AMANE SELECT
• NP_001139761.1:p.Thr542=
• NP_001230175.1:p.Thr542=
• NP_071751.3:p.Thr542=
• NP_071751.3:p.Thr542=
• LRG_5t1:c.1626G>A
• LRG_5:g.21805G>A
• LRG_5p1:p.Thr542=
• NC_000001.10:g.43215951C>T
• NM_022356.3:c.1626G>A

This HGVS expression did not pass validation

Links:

dbSNP: rs577059613

NCBI 1000 Genomes Browser:

rs577059613

Molecular consequence:

• NM_001146289.2:c.1626G>A - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001243246.2:c.1626G>A - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_022356.4:c.1626G>A - synonymous variant - [Sequence Ontology: SO:0001819]