ClinVar

NM_001318042.2(ZNF618):c.1858C>T (p.Arg620Trp)

Gene:

ZNF618:zinc finger protein 618 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

9q32

Genomic location:

• Chr9: 114049160 (on Assembly GRCh38)
• Chr9: 116811440 (on Assembly GRCh37)

Preferred name:

NM_001318042.2(ZNF618):c.1858C>T (p.Arg620Trp)

HGVS:

• NC_000009.12:g.114049160C>T
• NM_001318040.2:c.1759C>T
• NM_001318041.2:c.1762C>T
• NM_001318042.2:c.1858C>TMANE SELECT
• NM_133374.3:c.1579C>T
• NP_001304969.1:p.Arg587Trp
• NP_001304970.1:p.Arg588Trp
• NP_001304971.1:p.Arg620Trp
• NP_588615.2:p.Arg527Trp
• NC_000009.11:g.116811440C>T
• NM_133374.2:c.1579C>T

This HGVS expression did not pass validation

Protein change:

R527W

Molecular consequence:

• NM_001318040.2:c.1759C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001318041.2:c.1762C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001318042.2:c.1858C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_133374.3:c.1579C>T - missense variant - [Sequence Ontology: SO:0001583]