ClinVar

NM_001321827.2(NIBAN3):c.1465G>A (p.Gly489Arg)

Gene:

NIBAN3:niban apoptosis regulator 3 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

19p13.11

Genomic location:

• Chr19: 17543542 (on Assembly GRCh38)
• Chr19: 17654351 (on Assembly GRCh37)

Preferred name:

NM_001321827.2(NIBAN3):c.1465G>A (p.Gly489Arg)

HGVS:

• NC_000019.10:g.17543542G>A
• NM_001098524.2:c.1558G>A
• NM_001321826.2:c.1465G>A
• NM_001321827.2:c.1465G>AMANE SELECT
• NM_001321828.1:c.736G>A
• NM_001363609.1:c.1446+109G>A
• NM_173544.5:c.1558G>A
• NP_001091994.2:p.Gly520Arg
• NP_001308755.2:p.Gly489Arg
• NP_001308756.2:p.Gly489Arg
• NP_001308757.1:p.Gly246Arg
• NP_775815.3:p.Gly520Arg
• NC_000019.9:g.17654351G>A
• NM_173544.4:c.1558G>A

This HGVS expression did not pass validation

Protein change:

G246R

Molecular consequence:

• NM_001363609.1:c.1446+109G>A - intron variant - [Sequence Ontology: SO:0001627]
• NM_001098524.2:c.1558G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001321826.2:c.1465G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001321827.2:c.1465G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001321828.1:c.736G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_173544.5:c.1558G>A - missense variant - [Sequence Ontology: SO:0001583]