ClinVar

NM_001379286.1(ZNF423):c.2667G>A (p.Ala889=)

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

16q12.1

Genomic location:

• Chr16: 49636509 (on Assembly GRCh38)
• Chr16: 49670420 (on Assembly GRCh37)

Preferred name:

NM_001379286.1(ZNF423):c.2667G>A (p.Ala889=)

HGVS:

• NC_000016.10:g.49636509C>T
• NG_032972.2:g.226411G>A
• NM_001271620.2:c.2463G>A
• NM_001330533.2:c.2292G>A
• NM_001379286.1:c.2667G>AMANE SELECT
• NM_015069.5:c.2643G>A
• NP_001258549.1:p.Ala821=
• NP_001317462.1:p.Ala764=
• NP_001366215.1:p.Ala889=
• NP_055884.2:p.Ala881=
• NC_000016.9:g.49670420C>T

This HGVS expression did not pass validation

Links:

dbSNP: rs756580782

NCBI 1000 Genomes Browser:

rs756580782

Molecular consequence:

• NM_001271620.2:c.2463G>A - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001330533.2:c.2292G>A - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001379286.1:c.2667G>A - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_015069.5:c.2643G>A - synonymous variant - [Sequence Ontology: SO:0001819]