ClinVar

NM_001174096.2(ZEB1):c.3G>A (p.Met1Ile)

Genes:

LOC130003630:ATAC-STARR-seq lymphoblastoid silent region 2275 [Gene]
ZEB1-AS1:ZEB1 antisense RNA 1 [Gene - OMIM - HGNC]
ZEB1:zinc finger E-box binding homeobox 1 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

10p11.22

Genomic location:

• Chr10: 31319237 (on Assembly GRCh38)
• Chr10: 31608166 (on Assembly GRCh37)

Preferred name:

NM_001174096.2(ZEB1):c.3G>A (p.Met1Ile)

HGVS:

• NC_000010.11:g.31319237G>A
• NG_017048.1:g.5066G>A
• NM_001174093.2:c.3G>A
• NM_001174095.2:c.3G>A
• NM_001174096.2:c.3G>AMANE SELECT
• NM_001323638.2:c.-1061+104G>A
• NM_001323641.2:c.-597+104G>A
• NM_001323642.2:c.-899+104G>A
• NM_001323643.2:c.-721+104G>A
• NM_001323644.2:c.-396+104G>A
• NM_001323645.2:c.-740+104G>A
• NM_001323646.2:c.-978+104G>A
• NM_001323647.2:c.-795G>A
• NM_001323648.2:c.-735G>A
• NM_001323649.2:c.-798G>A
• NM_001323650.2:c.-1030G>A
• NM_001323651.2:c.-698G>A
• NM_001323652.2:c.-847G>A
• NM_001323653.2:c.-954G>A
• NM_001323654.2:c.-841G>A
• NM_001323655.2:c.-951G>A
• NM_001323674.2:c.3G>A
• NM_030751.6:c.3G>A
• NP_001167564.1:p.Met1Ile
• NP_001167566.1:p.Met1Ile
• NP_001167567.1:p.Met1Ile
• NP_001310603.1:p.Met1Ile
• NP_110378.3:p.Met1Ile
• NC_000010.10:g.31608166G>A
• NM_030751.5:c.3G>A

This HGVS expression did not pass validation

Protein change:

M1I

Links:

dbSNP: rs1554797626

NCBI 1000 Genomes Browser:

rs1554797626

Molecular consequence:

• NM_001323647.2:c.-795G>A - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
• NM_001323648.2:c.-735G>A - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
• NM_001323649.2:c.-798G>A - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
• NM_001323650.2:c.-1030G>A - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
• NM_001323651.2:c.-698G>A - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
• NM_001323652.2:c.-847G>A - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
• NM_001323653.2:c.-954G>A - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
• NM_001323654.2:c.-841G>A - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
• NM_001323655.2:c.-951G>A - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
• NM_001174093.2:c.3G>A - initiator_codon_variant - [Sequence Ontology: SO:0001582]
• NM_001174095.2:c.3G>A - initiator_codon_variant - [Sequence Ontology: SO:0001582]
• NM_001174096.2:c.3G>A - initiator_codon_variant - [Sequence Ontology: SO:0001582]
• NM_001323674.2:c.3G>A - initiator_codon_variant - [Sequence Ontology: SO:0001582]
• NM_030751.6:c.3G>A - initiator_codon_variant - [Sequence Ontology: SO:0001582]
• NM_001323638.2:c.-1061+104G>A - intron variant - [Sequence Ontology: SO:0001627]
• NM_001323641.2:c.-597+104G>A - intron variant - [Sequence Ontology: SO:0001627]
• NM_001323642.2:c.-899+104G>A - intron variant - [Sequence Ontology: SO:0001627]
• NM_001323643.2:c.-721+104G>A - intron variant - [Sequence Ontology: SO:0001627]
• NM_001323644.2:c.-396+104G>A - intron variant - [Sequence Ontology: SO:0001627]
• NM_001323645.2:c.-740+104G>A - intron variant - [Sequence Ontology: SO:0001627]
• NM_001323646.2:c.-978+104G>A - intron variant - [Sequence Ontology: SO:0001627]
• NM_001174093.2:c.3G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001174095.2:c.3G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001174096.2:c.3G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001323674.2:c.3G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_030751.6:c.3G>A - missense variant - [Sequence Ontology: SO:0001583]