ClinVar

NM_016373.4(WWOX):c.58C>T (p.Pro20Ser)

Gene:

WWOX:WW domain containing oxidoreductase [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

16q23.1

Genomic location:

• Chr16: 78099836 (on Assembly GRCh38)
• Chr16: 78133733 (on Assembly GRCh37)

Preferred name:

NM_016373.4(WWOX):c.58C>T (p.Pro20Ser)

HGVS:

• NC_000016.10:g.78099836C>T
• NG_011698.1:g.5183C>T
• NG_134376.1:g.49C>T
• NM_001291997.2:c.-217C>T
• NM_016373.4:c.58C>TMANE SELECT
• NM_130791.5:c.58C>T
• NP_057457.1:p.Pro20Ser
• NP_570607.1:p.Pro20Ser
• NC_000016.9:g.78133733C>T
• NM_016373.2:c.58C>T
• NR_120435.2:n.183C>T
• NR_120436.3:n.183C>T

This HGVS expression did not pass validation

Protein change:

P20S

Molecular consequence:

• NM_001291997.2:c.-217C>T - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
• NM_016373.4:c.58C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_130791.5:c.58C>T - missense variant - [Sequence Ontology: SO:0001583]
• NR_120435.2:n.183C>T - non-coding transcript variant - [Sequence Ontology: SO:0001619]
• NR_120436.3:n.183C>T - non-coding transcript variant - [Sequence Ontology: SO:0001619]