ClinVar

NM_000285.4(PEPD):c.1294G>A (p.Ala432Thr)

Gene:

PEPD:peptidase D [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

19q13.11

Genomic location:

• Chr19: 33387940 (on Assembly GRCh38)
• Chr19: 33878846 (on Assembly GRCh37)

Preferred name:

NM_000285.4(PEPD):c.1294G>A (p.Ala432Thr)

Other names:

p.Ala432Thr

HGVS:

• NC_000019.10:g.33387940C>T
• NG_013358.2:g.138954G>A
• NM_000285.4:c.1294G>AMANE SELECT
• NM_001166056.2:c.1171G>A
• NM_001166057.2:c.1102G>A
• NP_000276.2:p.Ala432Thr
• NP_001159528.1:p.Ala391Thr
• NP_001159529.1:p.Ala368Thr
• NC_000019.9:g.33878846C>T
• NG_013358.1:g.138954G>A
• NM_000285.3:c.1294G>A

This HGVS expression did not pass validation

Protein change:

A368T

Links:

dbSNP: rs149042427

NCBI 1000 Genomes Browser:

rs149042427

Molecular consequence:

• NM_000285.4:c.1294G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001166056.2:c.1171G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001166057.2:c.1102G>A - missense variant - [Sequence Ontology: SO:0001583]