ClinVar

NM_004917.5(KLK4):c.632del (p.Leu211fs)

Gene:

KLK4:kallikrein related peptidase 4 [Gene - OMIM - HGNC]

Variant type:

Deletion

Cytogenetic location:

19q13.41

Genomic location:

• Chr19: 50907067 (on Assembly GRCh38)
• Chr19: 51410323 (on Assembly GRCh37)

Preferred name:

NM_004917.5(KLK4):c.632del (p.Leu211fs)

HGVS:

• NC_000019.10:g.50907067del
• NG_012154.2:g.8672del
• NM_001302961.2:c.347del
• NM_004917.5:c.632delMANE SELECT
• NP_001289890.1:p.Leu116fs
• NP_004908.4:p.Leu211fs
• NC_000019.9:g.51410323del
• NM_004917.4:c.632delT
• NR_126566.2:n.621del

This HGVS expression did not pass validation

Protein change:

L116fs

Links:

dbSNP: rs556734208

NCBI 1000 Genomes Browser:

rs556734208

Molecular consequence:

• NM_001302961.2:c.347del - frameshift variant - [Sequence Ontology: SO:0001589]
• NM_004917.5:c.632del - frameshift variant - [Sequence Ontology: SO:0001589]
• NR_126566.2:n.621del - non-coding transcript variant - [Sequence Ontology: SO:0001619]

Functional consequence:

protein truncation [Variation Ontology: 0015]

Observations:

1