ClinVar

NM_001040185.3(ZNF765):c.1213C>A (p.His405Asn)

Genes:

ZNF765-ZNF761:ZNF765-ZNF761 readthrough [Gene]
ZNF765:zinc finger protein 765 [Gene - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

19q13.42

Genomic location:

• Chr19: 53408768 (on Assembly GRCh38)
• Chr19: 53912021 (on Assembly GRCh37)

Preferred name:

NM_001040185.3(ZNF765):c.1213C>A (p.His405Asn)

HGVS:

• NC_000019.10:g.53408768C>A
• NM_001040185.3:c.1213C>AMANE SELECT
• NM_001350495.2:c.1054C>A
• NM_001350496.2:c.-1345+6577C>A
• NP_001035275.1:p.His405Asn
• NP_001337424.1:p.His352Asn
• NC_000019.9:g.53912021C>A
• NM_001040185.1:c.1213C>A

This HGVS expression did not pass validation

Protein change:

H352N

Molecular consequence:

• NM_001350496.2:c.-1345+6577C>A - intron variant - [Sequence Ontology: SO:0001627]
• NM_001040185.3:c.1213C>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001350495.2:c.1054C>A - missense variant - [Sequence Ontology: SO:0001583]