ClinVar

NM_025215.6(PUS1):c.749C>T (p.Ser250Leu)

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

12q24.33

Genomic location:

• Chr12: 131941496 (on Assembly GRCh38)
• Chr12: 132426041 (on Assembly GRCh37)

Preferred name:

NM_025215.6(PUS1):c.749C>T (p.Ser250Leu)

HGVS:

• NC_000012.12:g.131941496C>T
• NG_013039.1:g.17297C>T
• NG_013039.2:g.17222C>T
• NM_001002019.3:c.665C>T
• NM_001002020.3:c.665C>T
• NM_025215.6:c.749C>TMANE SELECT
• NP_001002019.1:p.Ser222Leu
• NP_001002020.1:p.Ser222Leu
• NP_079491.2:p.Ser250Leu
• NC_000012.11:g.132426041C>T

This HGVS expression did not pass validation

Protein change:

S222L

Molecular consequence:

• NM_001002019.3:c.665C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001002020.3:c.665C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_025215.6:c.749C>T - missense variant - [Sequence Ontology: SO:0001583]

Observations:

1