ClinVar

NM_014519.6(ZNF232):c.203C>T (p.Pro68Leu)

Gene:

ZNF232:zinc finger protein 232 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

17p13.2

Genomic location:

• Chr17: 5109689 (on Assembly GRCh38)
• Chr17: 5012984 (on Assembly GRCh37)

Preferred name:

NM_014519.6(ZNF232):c.203C>T (p.Pro68Leu)

HGVS:

• NC_000017.11:g.5109689G>A
• NM_001320952.1:c.203C>T
• NM_001320953.2:c.122C>T
• NM_001320954.2:c.122C>T
• NM_001320955.1:c.203C>T
• NM_001395550.1:c.59C>T
• NM_001395551.1:c.122C>T
• NM_001395552.1:c.59C>T
• NM_014519.6:c.203C>TMANE SELECT
• NP_001307881.1:p.Pro68Leu
• NP_001307882.1:p.Pro41Leu
• NP_001307883.1:p.Pro41Leu
• NP_001307884.1:p.Pro68Leu
• NP_001382479.1:p.Pro20Leu
• NP_001382480.1:p.Pro41Leu
• NP_001382481.1:p.Pro20Leu
• NP_055334.2:p.Pro68Leu
• NC_000017.10:g.5012984G>A
• NM_014519.2:c.203C>T

This HGVS expression did not pass validation

Protein change:

P20L

Molecular consequence:

• NM_001320952.1:c.203C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001320953.2:c.122C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001320954.2:c.122C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001320955.1:c.203C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001395550.1:c.59C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001395551.1:c.122C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001395552.1:c.59C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_014519.6:c.203C>T - missense variant - [Sequence Ontology: SO:0001583]