ClinVar

NM_025215.6(PUS1):c.545-7C>T

Gene:

PUS1:pseudouridine synthase 1 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

12q24.33

Genomic location:

• Chr12: 131941285 (on Assembly GRCh38)
• Chr12: 132425830 (on Assembly GRCh37)

Preferred name:

NM_025215.6(PUS1):c.545-7C>T

HGVS:

• NC_000012.12:g.131941285C>T
• NG_013039.1:g.17086C>T
• NM_001002019.3:c.461-7C>T
• NM_001002020.3:c.461-7C>T
• NM_025215.6:c.545-7C>TMANE SELECT
• NC_000012.11:g.132425830C>T
• NM_025215.5:c.545-7C>T

This HGVS expression did not pass validation

Links:

dbSNP: rs201541270

NCBI 1000 Genomes Browser:

rs201541270

Molecular consequence:

• NM_001002019.3:c.461-7C>T - intron variant - [Sequence Ontology: SO:0001627]
• NM_001002020.3:c.461-7C>T - intron variant - [Sequence Ontology: SO:0001627]
• NM_025215.6:c.545-7C>T - intron variant - [Sequence Ontology: SO:0001627]