ClinVar

NM_007196.4(KLK8):c.709G>T (p.Asp237Tyr)

Gene:

KLK8:kallikrein related peptidase 8 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

19q13.41

Genomic location:

• Chr19: 50996133 (on Assembly GRCh38)
• Chr19: 51499389 (on Assembly GRCh37)

Preferred name:

NM_007196.4(KLK8):c.709G>T (p.Asp237Tyr)

HGVS:

• NC_000019.10:g.50996133C>A
• NM_001281431.2:c.346G>T
• NM_007196.4:c.709G>TMANE SELECT
• NM_144505.3:c.844G>T
• NM_144506.3:c.286G>T
• NM_144507.3:c.*53G>T
• NP_001268360.1:p.Asp116Tyr
• NP_009127.1:p.Asp237Tyr
• NP_653088.1:p.Asp282Tyr
• NP_653089.1:p.Asp96Tyr
• NC_000019.9:g.51499389C>A
• NM_144505.1:c.844G>T
• NR_104008.2:n.527G>T

This HGVS expression did not pass validation

Protein change:

D116Y

Molecular consequence:

• NM_144507.3:c.*53G>T - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
• NM_001281431.2:c.346G>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_007196.4:c.709G>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_144505.3:c.844G>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_144506.3:c.286G>T - missense variant - [Sequence Ontology: SO:0001583]
• NR_104008.2:n.527G>T - non-coding transcript variant - [Sequence Ontology: SO:0001619]