ClinVar

NM_000310.4(PPT1):c.255C>T (p.Phe85=)

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

1p34.2

Genomic location:

• Chr1: 40092152 (on Assembly GRCh38)
• Chr1: 40557824 (on Assembly GRCh37)

Preferred name:

NM_000310.4(PPT1):c.255C>T (p.Phe85=)

HGVS:

• NC_000001.11:g.40092152G>A
• NG_009192.1:g.10319C>T
• NM_000310.4:c.255C>TMANE SELECT
• NM_001142604.2:c.125-2640C>T
• NM_001363695.2:c.255C>T
• NP_000301.1:p.Phe85=
• NP_001350624.1:p.Phe85=
• LRG_690:g.10319C>T
• NC_000001.10:g.40557824G>A

This HGVS expression did not pass validation

Links:

dbSNP: rs563017334

NCBI 1000 Genomes Browser:

rs563017334

Molecular consequence:

• NM_001142604.2:c.125-2640C>T - intron variant - [Sequence Ontology: SO:0001627]
• NM_000310.4:c.255C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001363695.2:c.255C>T - synonymous variant - [Sequence Ontology: SO:0001819]