ClinVar

NM_014795.4(ZEB2):c.1875C>T (p.Ala625=)

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

2q22.3

Genomic location:

• Chr2: 144399312 (on Assembly GRCh38)
• Chr2: 145156879 (on Assembly GRCh37)

Preferred name:

NM_014795.4(ZEB2):c.1875C>T (p.Ala625=)

HGVS:

• NC_000002.12:g.144399312G>A
• NG_016431.1:g.126080C>T
• NM_001171653.2:c.1803C>T
• NM_014795.4:c.1875C>TMANE SELECT
• NP_001165124.1:p.Ala601=
• NP_055610.1:p.Ala625=
• NC_000002.11:g.145156879G>A
• NM_014795.3:c.1875C>T

This HGVS expression did not pass validation

Links:

dbSNP: rs752759296

NCBI 1000 Genomes Browser:

rs752759296

Molecular consequence:

• NM_001171653.2:c.1803C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_014795.4:c.1875C>T - synonymous variant - [Sequence Ontology: SO:0001819]

Observations:

2