ClinVar

NM_001379286.1(ZNF423):c.2873A>C (p.Gln958Pro)

Gene:

ZNF423:zinc finger protein 423 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

16q12.1

Genomic location:

• Chr16: 49636303 (on Assembly GRCh38)
• Chr16: 49670214 (on Assembly GRCh37)

Preferred name:

NM_001379286.1(ZNF423):c.2873A>C (p.Gln958Pro)

HGVS:

• NC_000016.10:g.49636303T>G
• NG_032972.2:g.226617A>C
• NM_001271620.2:c.2669A>C
• NM_001330533.2:c.2498A>C
• NM_001379286.1:c.2873A>CMANE SELECT
• NM_015069.5:c.2849A>C
• NP_001258549.1:p.Gln890Pro
• NP_001317462.1:p.Gln833Pro
• NP_001366215.1:p.Gln958Pro
• NP_055884.2:p.Gln950Pro
• NC_000016.9:g.49670214T>G
• NM_015069.4:c.2849A>C

This HGVS expression did not pass validation

Protein change:

Q833P

Molecular consequence:

• NM_001271620.2:c.2669A>C - missense variant - [Sequence Ontology: SO:0001583]
• NM_001330533.2:c.2498A>C - missense variant - [Sequence Ontology: SO:0001583]
• NM_001379286.1:c.2873A>C - missense variant - [Sequence Ontology: SO:0001583]
• NM_015069.5:c.2849A>C - missense variant - [Sequence Ontology: SO:0001583]