ClinVar

NM_000310.4(PPT1):c.15C>T (p.Gly5=)

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

1p34.2

Genomic location:

• Chr1: 40097224 (on Assembly GRCh38)
• Chr1: 40562896 (on Assembly GRCh37)

Preferred name:

NM_000310.4(PPT1):c.15C>T (p.Gly5=)

HGVS:

• NC_000001.11:g.40097224G>A
• NG_009192.1:g.5247C>T
• NM_000310.4:c.15C>TMANE SELECT
• NM_001142604.2:c.15C>T
• NM_001363695.2:c.15C>T
• NP_000301.1:p.Gly5=
• NP_001136076.1:p.Gly5=
• NP_001350624.1:p.Gly5=
• LRG_690:g.5247C>T
• NC_000001.10:g.40562896G>A

This HGVS expression did not pass validation

Links:

dbSNP: rs749621114

NCBI 1000 Genomes Browser:

rs749621114

Molecular consequence:

• NM_000310.4:c.15C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001142604.2:c.15C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001363695.2:c.15C>T - synonymous variant - [Sequence Ontology: SO:0001819]