ClinVar

NM_005385.4(NKTR):c.1187G>T (p.Arg396Leu)

Genes:

ZBTB47-AS1:ZBTB47 and NKTR antisense RNA 1 [Gene - HGNC]
NKTR:natural killer cell triggering receptor [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

3p22.1

Genomic location:

• Chr3: 42636891 (on Assembly GRCh38)
• Chr3: 42678383 (on Assembly GRCh37)

Preferred name:

NM_005385.4(NKTR):c.1187G>T (p.Arg396Leu)

HGVS:

• NC_000003.12:g.42636891G>T
• NM_001349124.2:c.1187G>T
• NM_001349125.2:c.428G>T
• NM_001349126.2:c.83G>T
• NM_005385.4:c.1187G>TMANE SELECT
• NP_001336053.1:p.Arg396Leu
• NP_001336054.1:p.Arg143Leu
• NP_001336055.1:p.Arg28Leu
• NP_005376.2:p.Arg396Leu
• NC_000003.11:g.42678383G>T
• NM_005385.3:c.1187G>T

This HGVS expression did not pass validation

Protein change:

R143L

Molecular consequence:

• NM_001349124.2:c.1187G>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001349125.2:c.428G>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001349126.2:c.83G>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_005385.4:c.1187G>T - missense variant - [Sequence Ontology: SO:0001583]