ClinVar

NM_001367172.2(ZNF763):c.964C>T (p.Arg322Cys)

Genes:

ZNF69:zinc finger protein 69 [Gene - OMIM - HGNC]
ZNF763:zinc finger protein 763 [Gene - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

19p13.2

Genomic location:

• Chr19: 11978888 (on Assembly GRCh38)
• Chr19: 12089703 (on Assembly GRCh37)

Preferred name:

NM_001367172.2(ZNF763):c.964C>T (p.Arg322Cys)

HGVS:

• NC_000019.10:g.11978888C>T
• NM_001012753.2:c.973C>T
• NM_001367172.2:c.964C>TMANE SELECT
• NM_001367173.2:c.970C>T
• NM_001367174.2:c.598C>T
• NP_001012771.1:p.Arg325Cys
• NP_001354101.1:p.Arg322Cys
• NP_001354102.1:p.Arg324Cys
• NP_001354103.1:p.Arg200Cys
• NC_000019.9:g.12089703C>T
• NM_001012753.1:c.973C>T

This HGVS expression did not pass validation

Protein change:

R200C

Molecular consequence:

• NM_001012753.2:c.973C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001367172.2:c.964C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001367173.2:c.970C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001367174.2:c.598C>T - missense variant - [Sequence Ontology: SO:0001583]