ClinVar

NM_000310.4(PPT1):c.364A>T (p.Arg122Trp)

Gene:

PPT1:palmitoyl-protein thioesterase 1 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

1p34.2

Genomic location:

• Chr1: 40091398 (on Assembly GRCh38)
• Chr1: 40557070 (on Assembly GRCh37)

Preferred name:

NM_000310.4(PPT1):c.364A>T (p.Arg122Trp)

Other names:

p.R122W:AGG>TGG

HGVS:

• NC_000001.11:g.40091398T>A
• NG_009192.1:g.11073A>T
• NM_000310.4:c.364A>TMANE SELECT
• NM_001142604.2:c.125-1886A>T
• NM_001363695.2:c.364A>T
• NP_000301.1:p.Arg122Trp
• NP_000301.1:p.Arg122Trp
• NP_001350624.1:p.Arg122Trp
• LRG_690t1:c.364A>T
• LRG_690:g.11073A>T
• LRG_690p1:p.Arg122Trp
• NC_000001.10:g.40557070T>A
• NM_000310.2:c.364A>T
• NM_000310.3:c.364A>T
• P50897:p.Arg122Trp

This HGVS expression did not pass validation

Protein change:

R122W; ARG122TRP

Links:

UniProtKB: P50897#VAR_005553; OMIM: 600722.0001; dbSNP: rs137852695

NCBI 1000 Genomes Browser:

rs137852695

Molecular consequence:

• NM_001142604.2:c.125-1886A>T - intron variant - [Sequence Ontology: SO:0001627]
• NM_000310.4:c.364A>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001363695.2:c.364A>T - missense variant - [Sequence Ontology: SO:0001583]