ClinVar

NM_033468.4(ZNF257):c.1680A>T (p.Lys560Asn)

Gene:

ZNF257:zinc finger protein 257 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

19p12

Genomic location:

• Chr19: 22089430 (on Assembly GRCh38)
• Chr19: 22272232 (on Assembly GRCh37)

Preferred name:

NM_033468.4(ZNF257):c.1680A>T (p.Lys560Asn)

HGVS:

• NC_000019.10:g.22089430A>T
• NM_001316996.2:c.1584A>T
• NM_001316997.2:c.1452A>T
• NM_001316998.2:c.1452A>T
• NM_033468.4:c.1680A>TMANE SELECT
• NP_001303925.1:p.Lys528Asn
• NP_001303926.1:p.Lys484Asn
• NP_001303927.1:p.Lys484Asn
• NP_258429.2:p.Lys560Asn
• NC_000019.9:g.22272232A>T
• NM_033468.2:c.1680A>T

This HGVS expression did not pass validation

Protein change:

K484N

Molecular consequence:

• NM_001316996.2:c.1584A>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001316997.2:c.1452A>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001316998.2:c.1452A>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_033468.4:c.1680A>T - missense variant - [Sequence Ontology: SO:0001583]