ClinVar

NM_000285.4(PEPD):c.1345-1G>A

Gene:

PEPD:peptidase D [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

19q13.11

Genomic location:

• Chr19: 33387482 (on Assembly GRCh38)
• Chr19: 33878388 (on Assembly GRCh37)

Preferred name:

NM_000285.4(PEPD):c.1345-1G>A

HGVS:

• NC_000019.10:g.33387482C>T
• NG_013358.2:g.139412G>A
• NM_000285.4:c.1345-1G>AMANE SELECT
• NM_001166056.2:c.1222-1G>A
• NM_001166057.2:c.1153-1G>A
• NC_000019.9:g.33878388C>T

This HGVS expression did not pass validation

Links:

dbSNP: rs1600069637

NCBI 1000 Genomes Browser:

rs1600069637

Molecular consequence:

• NM_000285.4:c.1345-1G>A - splice acceptor variant - [Sequence Ontology: SO:0001574]
• NM_001166056.2:c.1222-1G>A - splice acceptor variant - [Sequence Ontology: SO:0001574]
• NM_001166057.2:c.1153-1G>A - splice acceptor variant - [Sequence Ontology: SO:0001574]

Observations:

3