ClinVar

NM_016373.4(WWOX):c.30C>T (p.Asp10=)

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

16q23.1

Genomic location:

• Chr16: 78099808 (on Assembly GRCh38)
• Chr16: 78133705 (on Assembly GRCh37)

Preferred name:

NM_016373.4(WWOX):c.30C>T (p.Asp10=)

HGVS:

• NC_000016.10:g.78099808C>T
• NG_011698.1:g.5155C>T
• NM_001291997.2:c.-245C>T
• NM_016373.3:c.30C>T
• NM_016373.4:c.30C>TMANE SELECT
• NM_130791.5:c.30C>T
• NP_057457.1:p.Asp10=
• NP_570607.1:p.Asp10=
• NC_000016.9:g.78133705C>T
• NR_120435.2:n.155C>T
• NR_120436.3:n.155C>T

This HGVS expression did not pass validation

Links:

dbSNP: rs373146723

NCBI 1000 Genomes Browser:

rs373146723

Molecular consequence:

• NM_001291997.2:c.-245C>T - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
• NR_120435.2:n.155C>T - non-coding transcript variant - [Sequence Ontology: SO:0001619]
• NR_120436.3:n.155C>T - non-coding transcript variant - [Sequence Ontology: SO:0001619]
• NM_016373.4:c.30C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_130791.5:c.30C>T - synonymous variant - [Sequence Ontology: SO:0001819]