ClinVar

NM_001297588.2(ZNF221):c.737G>T (p.Arg246Ile)

Gene:

ZNF221:zinc finger protein 221 [Gene - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

19q13.31

Genomic location:

• Chr19: 43966239 (on Assembly GRCh38)
• Chr19: 44470391 (on Assembly GRCh37)

Preferred name:

NM_001297588.2(ZNF221):c.737G>T (p.Arg246Ile)

HGVS:

• NC_000019.10:g.43966239G>T
• NM_001297588.2:c.737G>TMANE SELECT
• NM_001297589.2:c.737G>T
• NM_013359.3:c.737G>T
• NP_001284517.1:p.Arg246Ile
• NP_001284518.1:p.Arg246Ile
• NP_037491.2:p.Arg246Ile
• NC_000019.9:g.44470391G>T
• NM_013359.2:c.737G>T

This HGVS expression did not pass validation

Protein change:

R246I

Molecular consequence:

• NM_001297588.2:c.737G>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001297589.2:c.737G>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_013359.3:c.737G>T - missense variant - [Sequence Ontology: SO:0001583]