ClinVar

NM_001008801.2(ZNF468):c.1456C>T (p.Arg486Cys)

Gene:

ZNF468:zinc finger protein 468 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

19q13.41

Genomic location:

• Chr19: 52840838 (on Assembly GRCh38)
• Chr19: 53344091 (on Assembly GRCh37)

Preferred name:

NM_001008801.2(ZNF468):c.1456C>T (p.Arg486Cys)

HGVS:

• NC_000019.10:g.52840838G>A
• NM_001008801.2:c.1456C>TMANE SELECT
• NM_001277120.2:c.*1190C>T
• NP_001008801.1:p.Arg486Cys
• NC_000019.9:g.53344091G>A
• NM_001008801.1:c.1456C>T
• NR_102299.2:n.1950C>T
• NR_102300.2:n.1931C>T
• NR_102301.2:n.1832C>T

This HGVS expression did not pass validation

Protein change:

R486C

Molecular consequence:

• NM_001277120.2:c.*1190C>T - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
• NM_001008801.2:c.1456C>T - missense variant - [Sequence Ontology: SO:0001583]
• NR_102299.2:n.1950C>T - non-coding transcript variant - [Sequence Ontology: SO:0001619]
• NR_102300.2:n.1931C>T - non-coding transcript variant - [Sequence Ontology: SO:0001619]
• NR_102301.2:n.1832C>T - non-coding transcript variant - [Sequence Ontology: SO:0001619]