ClinVar

NM_203282.4(ZNF254):c.1129C>T (p.Arg377Cys)

Gene:

ZNF254:zinc finger protein 254 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

19p12

Genomic location:

• Chr19: 24127129 (on Assembly GRCh38)
• Chr19: 24309931 (on Assembly GRCh37)

Preferred name:

NM_203282.4(ZNF254):c.1129C>T (p.Arg377Cys)

HGVS:

• NC_000019.10:g.24127129C>T
• NM_001278661.2:c.1006C>T
• NM_001278662.2:c.1006C>T
• NM_001278663.2:c.874C>T
• NM_001278664.2:c.910C>T
• NM_001278677.2:c.1006C>T
• NM_001278678.2:c.874C>T
• NM_203282.4:c.1129C>TMANE SELECT
• NP_001265590.1:p.Arg336Cys
• NP_001265591.1:p.Arg336Cys
• NP_001265592.1:p.Arg292Cys
• NP_001265593.1:p.Arg304Cys
• NP_001265606.1:p.Arg336Cys
• NP_001265607.1:p.Arg292Cys
• NP_975011.3:p.Arg377Cys
• NC_000019.9:g.24309931C>T
• NM_203282.2:c.1129C>T

This HGVS expression did not pass validation

Protein change:

R292C

Molecular consequence:

• NM_001278661.2:c.1006C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001278662.2:c.1006C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001278663.2:c.874C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001278664.2:c.910C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001278677.2:c.1006C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001278678.2:c.874C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_203282.4:c.1129C>T - missense variant - [Sequence Ontology: SO:0001583]