ClinVar

NM_017595.6(NKIRAS2):c.187C>T (p.Arg63Trp)

Gene:

NKIRAS2:NFKB inhibitor interacting Ras like 2 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

17q21.2

Genomic location:

• Chr17: 42022491 (on Assembly GRCh38)
• Chr17: 40174509 (on Assembly GRCh37)

Preferred name:

NM_017595.6(NKIRAS2):c.187C>T (p.Arg63Trp)

HGVS:

• NC_000017.11:g.42022491C>T
• NM_001001349.2:c.187C>T
• NM_001144927.2:c.187C>T
• NM_001144928.2:c.168+19C>T
• NM_001144929.2:c.168+19C>T
• NM_017595.6:c.187C>TMANE SELECT
• NP_001001349.1:p.Arg63Trp
• NP_001138399.1:p.Arg63Trp
• NP_060065.2:p.Arg63Trp
• NC_000017.10:g.40174509C>T
• NM_001144927.1:c.187C>T

This HGVS expression did not pass validation

Protein change:

R63W

Molecular consequence:

• NM_001144928.2:c.168+19C>T - intron variant - [Sequence Ontology: SO:0001627]
• NM_001144929.2:c.168+19C>T - intron variant - [Sequence Ontology: SO:0001627]
• NM_001001349.2:c.187C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001144927.2:c.187C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_017595.6:c.187C>T - missense variant - [Sequence Ontology: SO:0001583]