ClinVar

NM_000285.4(PEPD):c.1094C>T (p.Pro365Leu)

Gene:

PEPD:peptidase D [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

19q13.11

Genomic location:

• Chr19: 33391353 (on Assembly GRCh38)
• Chr19: 33882259 (on Assembly GRCh37)

Preferred name:

NM_000285.4(PEPD):c.1094C>T (p.Pro365Leu)

HGVS:

• NC_000019.10:g.33391353G>A
• NG_013358.2:g.135541C>T
• NM_000285.4:c.1094C>TMANE SELECT
• NM_001166056.2:c.971C>T
• NM_001166057.2:c.902C>T
• NP_000276.2:p.Pro365Leu
• NP_001159528.1:p.Pro324Leu
• NP_001159529.1:p.Pro301Leu
• NC_000019.9:g.33882259G>A
• NG_013358.1:g.135541C>T
• NM_000285.3:c.1094C>T

This HGVS expression did not pass validation

Protein change:

P301L

Links:

dbSNP: rs200183031

NCBI 1000 Genomes Browser:

rs200183031

Molecular consequence:

• NM_000285.4:c.1094C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001166056.2:c.971C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001166057.2:c.902C>T - missense variant - [Sequence Ontology: SO:0001583]