ClinVar

NM_014795.4(ZEB2):c.1381C>T (p.Gln461Ter)

Gene:

ZEB2:zinc finger E-box binding homeobox 2 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

2q22.3

Genomic location:

• Chr2: 144399806 (on Assembly GRCh38)
• Chr2: 145157373 (on Assembly GRCh37)

Preferred name:

NM_014795.4(ZEB2):c.1381C>T (p.Gln461Ter)

HGVS:

• NC_000002.12:g.144399806G>A
• NG_016431.1:g.125586C>T
• NM_001171653.2:c.1309C>T
• NM_014795.4:c.1381C>TMANE SELECT
• NP_001165124.1:p.Gln437Ter
• NP_055610.1:p.Gln461Ter
• NC_000002.11:g.145157373G>A
• NM_014795.3:c.1381C>T
• NP_055610.1:p.Gln461*
• NP_055610.1:p.Gln461*

This HGVS expression did not pass validation

Protein change:

Q437*

Links:

dbSNP: rs398124274

NCBI 1000 Genomes Browser:

rs398124274

Molecular consequence:

• NM_001171653.2:c.1309C>T - nonsense - [Sequence Ontology: SO:0001587]
• NM_014795.4:c.1381C>T - nonsense - [Sequence Ontology: SO:0001587]

Observations:

1