ClinVar

NM_031307.4(PUS3):c.578G>A (p.Arg193Gln)

Genes:

HYLS1:HYLS1 centriolar and ciliogenesis associated [Gene - OMIM - HGNC]
PUS3:pseudouridine synthase 3 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

11q24.2

Genomic location:

• Chr11: 125895590 (on Assembly GRCh38)
• Chr11: 125765485 (on Assembly GRCh37)

Preferred name:

NM_031307.4(PUS3):c.578G>A (p.Arg193Gln)

HGVS:

• NC_000011.10:g.125895590C>T
• NG_011842.1:g.16977C>T
• NG_033067.1:g.12632G>A
• NG_033067.2:g.12616G>A
• NM_001134793.2:c.-25-3754C>TMANE SELECT
• NM_001271985.2:c.-47G>A
• NM_001377269.1:c.-25-3754C>T
• NM_001377270.1:c.-22-3757C>T
• NM_001424364.1:c.-22-3757C>T
• NM_031307.4:c.578G>AMANE SELECT
• NM_145014.3:c.-80-3514C>T
• NP_112597.4:p.Arg193Gln
• NC_000011.9:g.125765485C>T
• NM_031307.3:c.578G>A

This HGVS expression did not pass validation

Protein change:

R193Q

Links:

dbSNP: rs576405108

NCBI 1000 Genomes Browser:

rs576405108

Molecular consequence:

• NM_001271985.2:c.-47G>A - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
• NM_001134793.2:c.-25-3754C>T - intron variant - [Sequence Ontology: SO:0001627]
• NM_001377269.1:c.-25-3754C>T - intron variant - [Sequence Ontology: SO:0001627]
• NM_001377270.1:c.-22-3757C>T - intron variant - [Sequence Ontology: SO:0001627]
• NM_001424364.1:c.-22-3757C>T - intron variant - [Sequence Ontology: SO:0001627]
• NM_145014.3:c.-80-3514C>T - intron variant - [Sequence Ontology: SO:0001627]
• NM_031307.4:c.578G>A - missense variant - [Sequence Ontology: SO:0001583]