ClinVar

NM_001379286.1(ZNF423):c.2541C>T (p.Asn847=)

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

16q12.1

Genomic location:

• Chr16: 49636635 (on Assembly GRCh38)
• Chr16: 49670546 (on Assembly GRCh37)

Preferred name:

NM_001379286.1(ZNF423):c.2541C>T (p.Asn847=)

HGVS:

• NC_000016.10:g.49636635G>A
• NG_032972.2:g.226285C>T
• NM_001271620.2:c.2337C>T
• NM_001330533.2:c.2166C>T
• NM_001379286.1:c.2541C>TMANE SELECT
• NM_015069.5:c.2517C>T
• NP_001258549.1:p.Asn779=
• NP_001317462.1:p.Asn722=
• NP_001366215.1:p.Asn847=
• NP_055884.2:p.Asn839=
• NC_000016.9:g.49670546G>A
• NC_000016.9:g.49670546G>A
• NM_015069.3:c.2517C>T

This HGVS expression did not pass validation

Links:

dbSNP: rs146659313

NCBI 1000 Genomes Browser:

rs146659313

Molecular consequence:

• NM_001271620.2:c.2337C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001330533.2:c.2166C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001379286.1:c.2541C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_015069.5:c.2517C>T - synonymous variant - [Sequence Ontology: SO:0001819]