ClinVar

NM_032433.4(ZNF333):c.1982G>A (p.Gly661Glu)

Gene:

ZNF333:zinc finger protein 333 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

19p13.12

Genomic location:

• Chr19: 14719309 (on Assembly GRCh38)
• Chr19: 14830121 (on Assembly GRCh37)

Preferred name:

NM_032433.4(ZNF333):c.1982G>A (p.Gly661Glu)

HGVS:

• NC_000019.10:g.14719309G>A
• NM_001300912.2:c.900+1576G>A
• NM_001352239.2:c.1655G>A
• NM_001352240.2:c.1655G>A
• NM_001352241.2:c.1544G>A
• NM_001352243.2:c.1289G>A
• NM_001352244.2:c.*922G>A
• NM_032433.4:c.1982G>AMANE SELECT
• NP_001339168.1:p.Gly552Glu
• NP_001339169.1:p.Gly552Glu
• NP_001339170.1:p.Gly515Glu
• NP_001339172.1:p.Gly430Glu
• NP_115809.1:p.Gly661Glu
• NC_000019.9:g.14830121G>A
• NM_032433.2:c.1982G>A

This HGVS expression did not pass validation

Protein change:

G430E

Molecular consequence:

• NM_001352244.2:c.*922G>A - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
• NM_001300912.2:c.900+1576G>A - intron variant - [Sequence Ontology: SO:0001627]
• NM_001352239.2:c.1655G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001352240.2:c.1655G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001352241.2:c.1544G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001352243.2:c.1289G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_032433.4:c.1982G>A - missense variant - [Sequence Ontology: SO:0001583]