ClinVar

NM_014795.4(ZEB2):c.2641A>C (p.Asn881His)

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

2q22.3

Genomic location:

• Chr2: 144398546 (on Assembly GRCh38)
• Chr2: 145156113 (on Assembly GRCh37)

Preferred name:

NM_014795.4(ZEB2):c.2641A>C (p.Asn881His)

HGVS:

• NC_000002.12:g.144398546T>G
• NG_016431.1:g.126846A>C
• NM_001171653.2:c.2569A>C
• NM_014795.4:c.2641A>CMANE SELECT
• NP_001165124.1:p.Asn857His
• NP_055610.1:p.Asn881His
• NC_000002.11:g.145156113T>G
• NM_014795.3:c.2641A>C

This HGVS expression did not pass validation

Protein change:

N857H

Links:

dbSNP: rs794727922

NCBI 1000 Genomes Browser:

rs794727922

Molecular consequence:

• NM_001171653.2:c.2569A>C - missense variant - [Sequence Ontology: SO:0001583]
• NM_014795.4:c.2641A>C - missense variant - [Sequence Ontology: SO:0001583]

Observations:

1