ClinVar

NM_005857.5(ZMPSTE24):c.1018T>C (p.Trp340Arg)

Gene:

ZMPSTE24:zinc metallopeptidase STE24 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

1p34.2

Genomic location:

• Chr1: 40285988 (on Assembly GRCh38)
• Chr1: 40751660 (on Assembly GRCh37)

Preferred name:

NM_005857.5(ZMPSTE24):c.1018T>C (p.Trp340Arg)

HGVS:

• NC_000001.11:g.40285988T>C
• NG_008695.1:g.32928T>C
• NM_005857.5:c.1018T>CMANE SELECT
• NP_005848.2:p.Trp340Arg
• LRG_212t1:c.1018T>C
• LRG_212:g.32928T>C
• LRG_212p1:p.Trp340Arg
• NC_000001.10:g.40751660T>C
• NM_005857.3:c.1018T>C
• O75844:p.Trp340Arg
• p.(Trp340Arg)

This HGVS expression did not pass validation

Protein change:

W340R; TRP340ARG

Links:

UniProtKB: O75844#VAR_019308; OMIM: 606480.0002; dbSNP: rs121908093

NCBI 1000 Genomes Browser:

rs121908093

Molecular consequence:

• NM_005857.5:c.1018T>C - missense variant - [Sequence Ontology: SO:0001583]