ClinVar

NM_015596.3(KLK13):c.329C>T (p.Pro110Leu)

Gene:

KLK13:kallikrein related peptidase 13 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

19q13.41

Genomic location:

• Chr19: 51060004 (on Assembly GRCh38)
• Chr19: 51563261 (on Assembly GRCh37)

Preferred name:

NM_015596.3(KLK13):c.329C>T (p.Pro110Leu)

HGVS:

• NC_000019.10:g.51060004G>A
• NM_001348177.2:c.289+40C>T
• NM_001348178.2:c.53-1330C>T
• NM_015596.3:c.329C>TMANE SELECT
• NP_056411.1:p.Pro110Leu
• NC_000019.9:g.51563261G>A
• NM_015596.1:c.329C>T
• NR_145464.2:n.630C>T
• NR_145466.2:n.599C>T

This HGVS expression did not pass validation

Protein change:

P110L

Molecular consequence:

• NM_001348177.2:c.289+40C>T - intron variant - [Sequence Ontology: SO:0001627]
• NM_001348178.2:c.53-1330C>T - intron variant - [Sequence Ontology: SO:0001627]
• NM_015596.3:c.329C>T - missense variant - [Sequence Ontology: SO:0001583]
• NR_145464.2:n.630C>T - non-coding transcript variant - [Sequence Ontology: SO:0001619]
• NR_145466.2:n.599C>T - non-coding transcript variant - [Sequence Ontology: SO:0001619]