ClinVar

NM_000310.4(PPT1):c.86C>A (p.Pro29Gln)

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

1p34.2

Genomic location:

• Chr1: 40097153 (on Assembly GRCh38)
• Chr1: 40562825 (on Assembly GRCh37)

Preferred name:

NM_000310.4(PPT1):c.86C>A (p.Pro29Gln)

Other names:

p.P29Q:CCG>CAG

HGVS:

• NC_000001.11:g.40097153G>T
• NG_009192.1:g.5318C>A
• NM_000310.4:c.86C>AMANE SELECT
• NM_001142604.2:c.86C>A
• NM_001363695.2:c.86C>A
• NP_000301.1:p.Pro29Gln
• NP_000301.1:p.Pro29Gln
• NP_001136076.1:p.Pro29Gln
• NP_001350624.1:p.Pro29Gln
• LRG_690t1:c.86C>A
• LRG_690:g.5318C>A
• LRG_690p1:p.Pro29Gln
• NC_000001.10:g.40562825G>T
• NM_000310.3:c.86C>A

This HGVS expression did not pass validation

Protein change:

P29Q

Links:

dbSNP: rs778256566

NCBI 1000 Genomes Browser:

rs778256566

Molecular consequence:

• NM_000310.4:c.86C>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001142604.2:c.86C>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001363695.2:c.86C>A - missense variant - [Sequence Ontology: SO:0001583]