ClinVar

NM_014795.4(ZEB2):c.1877G>A (p.Gly626Glu)

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

2q22.3

Genomic location:

• Chr2: 144399310 (on Assembly GRCh38)
• Chr2: 145156877 (on Assembly GRCh37)

Preferred name:

NM_014795.4(ZEB2):c.1877G>A (p.Gly626Glu)

HGVS:

• NC_000002.12:g.144399310C>T
• NG_016431.1:g.126082G>A
• NM_001171653.2:c.1805G>A
• NM_014795.4:c.1877G>AMANE SELECT
• NP_001165124.1:p.Gly602Glu
• NP_055610.1:p.Gly626Glu
• NC_000002.11:g.145156877C>T
• NM_014795.3:c.1877G>A

This HGVS expression did not pass validation

Protein change:

G602E

Links:

dbSNP: rs794727923

NCBI 1000 Genomes Browser:

rs794727923

Molecular consequence:

• NM_001171653.2:c.1805G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_014795.4:c.1877G>A - missense variant - [Sequence Ontology: SO:0001583]

Observations:

1