ClinVar

NM_000448.3(RAG1):c.1186C>T (p.Arg396Cys)

Gene:

RAG1:recombination activating 1 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

11p12

Genomic location:

• Chr11: 36574490 (on Assembly GRCh38)
• Chr11: 36596040 (on Assembly GRCh37)

Preferred name:

NM_000448.3(RAG1):c.1186C>T (p.Arg396Cys)

HGVS:

• NC_000011.10:g.36574490C>T
• NG_007528.1:g.11478C>T
• NM_000448.3:c.1186C>TMANE SELECT
• NM_001377277.1:c.1186C>T
• NM_001377278.1:c.1186C>T
• NM_001377279.1:c.1186C>T
• NM_001377280.1:c.1186C>T
• NP_000439.1:p.Arg396Cys
• NP_000439.2:p.Arg396Cys
• NP_001364206.1:p.Arg396Cys
• NP_001364207.1:p.Arg396Cys
• NP_001364208.1:p.Arg396Cys
• NP_001364209.1:p.Arg396Cys
• LRG_98t1:c.1186C>T
• LRG_98:g.11478C>T
• LRG_98p1:p.Arg396Cys
• NC_000011.9:g.36596040C>T
• NM_000448.2:c.1186C>T
• P15918:p.Arg396Cys

This HGVS expression did not pass validation

Protein change:

R396C; ARG396CYS

Links:

UniProtKB: P15918#VAR_008886; UniProtKB/Swiss-Prot: VAR_008886; OMIM: 179615.0006; dbSNP: rs104894289

NCBI 1000 Genomes Browser:

rs104894289

Molecular consequence:

• NM_000448.3:c.1186C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001377277.1:c.1186C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001377278.1:c.1186C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001377279.1:c.1186C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001377280.1:c.1186C>T - missense variant - [Sequence Ontology: SO:0001583]