ClinVar

NM_001321827.2(NIBAN3):c.212G>A (p.Arg71Gln)

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

19p13.11

Genomic location:

• Chr19: 17532288 (on Assembly GRCh38)
• Chr19: 17643097 (on Assembly GRCh37)

Preferred name:

NM_001321827.2(NIBAN3):c.212G>A (p.Arg71Gln)

HGVS:

• NC_000019.10:g.17532288G>A
• NM_001098524.2:c.305G>A
• NM_001321826.2:c.212G>A
• NM_001321827.2:c.212G>AMANE SELECT
• NM_001321828.1:c.-518G>A
• NM_001363609.1:c.212G>A
• NM_173544.5:c.305G>A
• NP_001091994.2:p.Arg102Gln
• NP_001308755.2:p.Arg71Gln
• NP_001308756.2:p.Arg71Gln
• NP_001350538.1:p.Arg71Gln
• NP_775815.3:p.Arg102Gln
• NC_000019.9:g.17643097G>A
• NM_173544.4:c.305G>A

This HGVS expression did not pass validation

Protein change:

R102Q

Molecular consequence:

• NM_001321828.1:c.-518G>A - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
• NM_001098524.2:c.305G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001321826.2:c.212G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001321827.2:c.212G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001363609.1:c.212G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_173544.5:c.305G>A - missense variant - [Sequence Ontology: SO:0001583]