ClinVar

NM_032433.4(ZNF333):c.1054C>T (p.His352Tyr)

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

19p13.12

Genomic location:

• Chr19: 14718381 (on Assembly GRCh38)
• Chr19: 14829193 (on Assembly GRCh37)

Preferred name:

NM_032433.4(ZNF333):c.1054C>T (p.His352Tyr)

HGVS:

• NC_000019.10:g.14718381C>T
• NM_001300912.2:c.900+648C>T
• NM_001352239.2:c.727C>T
• NM_001352240.2:c.727C>T
• NM_001352241.2:c.616C>T
• NM_001352243.2:c.361C>T
• NM_001352244.2:c.1113C>T
• NM_032433.4:c.1054C>TMANE SELECT
• NP_001339168.1:p.His243Tyr
• NP_001339169.1:p.His243Tyr
• NP_001339170.1:p.His206Tyr
• NP_001339172.1:p.His121Tyr
• NP_001339173.1:p.Pro371=
• NP_115809.1:p.His352Tyr
• NC_000019.9:g.14829193C>T
• NM_032433.2:c.1054C>T

This HGVS expression did not pass validation

Protein change:

H121Y

Molecular consequence:

• NM_001300912.2:c.900+648C>T - intron variant - [Sequence Ontology: SO:0001627]
• NM_001352239.2:c.727C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001352240.2:c.727C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001352241.2:c.616C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001352243.2:c.361C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_032433.4:c.1054C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001352244.2:c.1113C>T - synonymous variant - [Sequence Ontology: SO:0001819]