ClinVar

NM_001367172.2(ZNF763):c.346A>C (p.Ile116Leu)

Genes:

ZNF69:zinc finger protein 69 [Gene - OMIM - HGNC]
ZNF763:zinc finger protein 763 [Gene - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

19p13.2

Genomic location:

• Chr19: 11978270 (on Assembly GRCh38)
• Chr19: 12089085 (on Assembly GRCh37)

Preferred name:

NM_001367172.2(ZNF763):c.346A>C (p.Ile116Leu)

HGVS:

• NC_000019.10:g.11978270A>C
• NM_001012753.2:c.355A>C
• NM_001367172.2:c.346A>CMANE SELECT
• NM_001367173.2:c.352A>C
• NM_001367174.2:c.-21A>C
• NP_001012771.1:p.Ile119Leu
• NP_001354101.1:p.Ile116Leu
• NP_001354102.1:p.Ile118Leu
• NC_000019.9:g.12089085A>C
• NM_001012753.1:c.355A>C

This HGVS expression did not pass validation

Protein change:

I116L

Molecular consequence:

• NM_001367174.2:c.-21A>C - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
• NM_001012753.2:c.355A>C - missense variant - [Sequence Ontology: SO:0001583]
• NM_001367172.2:c.346A>C - missense variant - [Sequence Ontology: SO:0001583]
• NM_001367173.2:c.352A>C - missense variant - [Sequence Ontology: SO:0001583]