ClinVar

NM_022356.4(P3H1):c.1080+1G>T

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

1p34.2

Genomic location:

• Chr1: 42757782 (on Assembly GRCh38)
• Chr1: 43223453 (on Assembly GRCh37)

Preferred name:

NM_022356.4(P3H1):c.1080+1G>T

Other names:

P3H1, IVS5, G-T, +1

HGVS:

• NC_000001.11:g.42757782C>A
• NG_008123.1:g.14303G>T
• NM_001146289.2:c.1080+1G>T
• NM_001243246.2:c.1080+1G>T
• NM_022356.4:c.1080+1G>TMANE SELECT
• LRG_5t1:c.1080+1G>T
• LRG_5:g.14303G>T
• NC_000001.10:g.43223453C>A
• NM_022356.3:c.1080+1G>T

This HGVS expression did not pass validation

Note:

NCBI staff reviewed the sequence information reported in PubMed 17277775 Fig. S1 to determine the location of this allele on the current reference sequence.

Nucleotide change:

IVS5, G-T, +1

Links:

OMIM: 610339.0001; dbSNP: rs72659351

NCBI 1000 Genomes Browser:

rs72659351

Molecular consequence:

• NM_001146289.2:c.1080+1G>T - splice donor variant - [Sequence Ontology: SO:0001575]
• NM_001243246.2:c.1080+1G>T - splice donor variant - [Sequence Ontology: SO:0001575]
• NM_022356.4:c.1080+1G>T - splice donor variant - [Sequence Ontology: SO:0001575]

Observations:

6