ClinVar

NM_033468.4(ZNF257):c.619G>A (p.Gly207Ser)

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

19p12

Genomic location:

• Chr19: 22088369 (on Assembly GRCh38)
• Chr19: 22271171 (on Assembly GRCh37)

Preferred name:

NM_033468.4(ZNF257):c.619G>A (p.Gly207Ser)

HGVS:

• NC_000019.10:g.22088369G>A
• NM_001316996.2:c.523G>A
• NM_001316997.2:c.391G>A
• NM_001316998.2:c.391G>A
• NM_033468.4:c.619G>AMANE SELECT
• NP_001303925.1:p.Gly175Ser
• NP_001303926.1:p.Gly131Ser
• NP_001303927.1:p.Gly131Ser
• NP_258429.2:p.Gly207Ser
• NC_000019.9:g.22271171G>A
• NM_033468.2:c.619G>A

This HGVS expression did not pass validation

Protein change:

G131S

Molecular consequence:

• NM_001316996.2:c.523G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001316997.2:c.391G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001316998.2:c.391G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_033468.4:c.619G>A - missense variant - [Sequence Ontology: SO:0001583]