ClinVar

NM_032433.4(ZNF333):c.517C>A (p.Pro173Thr)

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

19p13.12

Genomic location:

• Chr19: 14715387 (on Assembly GRCh38)
• Chr19: 14826199 (on Assembly GRCh37)

Preferred name:

NM_032433.4(ZNF333):c.517C>A (p.Pro173Thr)

HGVS:

• NC_000019.10:g.14715387C>A
• NM_001300912.2:c.517C>A
• NM_001352239.2:c.190C>A
• NM_001352240.2:c.190C>A
• NM_001352241.2:c.79C>A
• NM_001352243.2:c.-158C>A
• NM_001352244.2:c.517C>A
• NM_032433.4:c.517C>AMANE SELECT
• NP_001287841.1:p.Pro173Thr
• NP_001339168.1:p.Pro64Thr
• NP_001339169.1:p.Pro64Thr
• NP_001339170.1:p.Pro27Thr
• NP_001339173.1:p.Pro173Thr
• NP_115809.1:p.Pro173Thr
• NC_000019.9:g.14826199C>A
• NM_032433.2:c.517C>A

This HGVS expression did not pass validation

Protein change:

P173T

Molecular consequence:

• NM_001352243.2:c.-158C>A - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
• NM_001300912.2:c.517C>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001352239.2:c.190C>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001352240.2:c.190C>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001352241.2:c.79C>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001352244.2:c.517C>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_032433.4:c.517C>A - missense variant - [Sequence Ontology: SO:0001583]