ClinVar

NM_001379286.1(ZNF423):c.302A>T (p.Asp101Val)

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

16q12.1

Genomic location:

• Chr16: 49638874 (on Assembly GRCh38)
• Chr16: 49672785 (on Assembly GRCh37)

Preferred name:

NM_001379286.1(ZNF423):c.302A>T (p.Asp101Val)

HGVS:

• NC_000016.10:g.49638874T>A
• NG_032972.2:g.224046A>T
• NM_001271620.2:c.98A>T
• NM_001330533.2:c.-74A>T
• NM_001379286.1:c.302A>TMANE SELECT
• NM_015069.5:c.278A>T
• NP_001258549.1:p.Asp33Val
• NP_001366215.1:p.Asp101Val
• NP_055884.2:p.Asp93Val
• NC_000016.9:g.49672785T>A
• NM_015069.4:c.278A>T

This HGVS expression did not pass validation

Protein change:

D101V

Molecular consequence:

• NM_001330533.2:c.-74A>T - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
• NM_001271620.2:c.98A>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001379286.1:c.302A>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_015069.5:c.278A>T - missense variant - [Sequence Ontology: SO:0001583]