ClinVar

NM_213603.3(ZNF789):c.808G>A (p.Ala270Thr)

Genes:

ZNF394:zinc finger protein 394 [Gene - OMIM - HGNC]
ZNF789:zinc finger protein 789 [Gene - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

7q22.1

Genomic location:

• Chr7: 99487018 (on Assembly GRCh38)
• Chr7: 99084641 (on Assembly GRCh37)

Preferred name:

NM_213603.3(ZNF789):c.808G>A (p.Ala270Thr)

HGVS:

• NC_000007.14:g.99487018G>A
• NM_001345968.2:c.584-55C>T
• NM_001350999.2:c.757G>A
• NM_001351000.2:c.694G>A
• NM_001351002.2:c.523G>A
• NM_001351004.2:c.523G>A
• NM_213603.3:c.808G>AMANE SELECT
• NP_001337928.1:p.Ala253Thr
• NP_001337929.1:p.Ala232Thr
• NP_001337931.1:p.Ala175Thr
• NP_001337933.1:p.Ala175Thr
• NP_998768.2:p.Ala270Thr
• NC_000007.13:g.99084641G>A
• NM_213603.2:c.808G>A

This HGVS expression did not pass validation

Protein change:

A175T

Molecular consequence:

• NM_001345968.2:c.584-55C>T - intron variant - [Sequence Ontology: SO:0001627]
• NM_001350999.2:c.757G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001351000.2:c.694G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001351002.2:c.523G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001351004.2:c.523G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_213603.3:c.808G>A - missense variant - [Sequence Ontology: SO:0001583]