ClinVar

NM_206894.4(ZNF790):c.1130G>A (p.Arg377His)

Genes:

ZNF790-AS1:ZNF790 antisense RNA 1 [Gene - HGNC]
ZNF790:zinc finger protein 790 [Gene - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

19q13.12

Genomic location:

• Chr19: 36819214 (on Assembly GRCh38)
• Chr19: 37310116 (on Assembly GRCh37)

Preferred name:

NM_206894.4(ZNF790):c.1130G>A (p.Arg377His)

HGVS:

• NC_000019.10:g.36819214C>T
• NM_001242800.2:c.1130G>A
• NM_001242801.2:c.1130G>A
• NM_001242802.2:c.1130G>A
• NM_206894.4:c.1130G>AMANE SELECT
• NP_001229729.1:p.Arg377His
• NP_001229730.1:p.Arg377His
• NP_001229731.1:p.Arg377His
• NP_996777.2:p.Arg377His
• NC_000019.9:g.37310116C>T
• NM_001242802.1:c.1130G>A

This HGVS expression did not pass validation

Protein change:

R377H

Molecular consequence:

• NM_001242800.2:c.1130G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001242801.2:c.1130G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001242802.2:c.1130G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_206894.4:c.1130G>A - missense variant - [Sequence Ontology: SO:0001583]