ClinVar

NM_000285.4(PEPD):c.-5C>T

Gene:

PEPD:peptidase D [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

19q13.11

Genomic location:

• Chr19: 33521765 (on Assembly GRCh38)
• Chr19: 34012671 (on Assembly GRCh37)

Preferred name:

NM_000285.4(PEPD):c.-5C>T

HGVS:

• NC_000019.10:g.33521765G>A
• NG_013358.2:g.5129C>T
• NM_000285.4:c.-5C>TMANE SELECT
• NM_001166056.2:c.-5C>T
• NM_001166057.2:c.-5C>T
• NC_000019.9:g.34012671G>A
• NG_013358.1:g.5129C>T
• NM_000285.3:c.-5C>T

This HGVS expression did not pass validation

Links:

dbSNP: rs368370973

NCBI 1000 Genomes Browser:

rs368370973

Molecular consequence:

• NM_000285.4:c.-5C>T - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
• NM_001166056.2:c.-5C>T - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
• NM_001166057.2:c.-5C>T - 5 prime UTR variant - [Sequence Ontology: SO:0001623]