ClinVar

NM_001305173.2(PRSS54):c.462G>T (p.Met154Ile)

Gene:

PRSS54:serine protease 54 [Gene - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

16q21

Genomic location:

• Chr16: 58285997 (on Assembly GRCh38)
• Chr16: 58319901 (on Assembly GRCh37)

Preferred name:

NM_001305173.2(PRSS54):c.462G>T (p.Met154Ile)

HGVS:

• NC_000016.10:g.58285997C>A
• NM_001080492.2:c.462G>T
• NM_001305173.2:c.462G>TMANE SELECT
• NM_001305174.2:c.165G>T
• NP_001073961.1:p.Met154Ile
• NP_001292102.1:p.Met154Ile
• NP_001292103.1:p.Met55Ile
• NC_000016.9:g.58319901C>A
• NM_001080492.1:c.462G>T

This HGVS expression did not pass validation

Protein change:

M154I

Molecular consequence:

• NM_001080492.2:c.462G>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001305173.2:c.462G>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001305174.2:c.165G>T - missense variant - [Sequence Ontology: SO:0001583]