ClinVar

NM_000448.3(RAG1):c.2164G>A (p.Glu722Lys)

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

11p12

Genomic location:

• Chr11: 36575468 (on Assembly GRCh38)
• Chr11: 36597018 (on Assembly GRCh37)

Preferred name:

NM_000448.3(RAG1):c.2164G>A (p.Glu722Lys)

HGVS:

• NC_000011.10:g.36575468G>A
• NG_007528.1:g.12456G>A
• NM_000448.2:c.2164G>A
• NM_000448.3:c.2164G>AMANE SELECT
• NM_001377277.1:c.2164G>A
• NM_001377278.1:c.2164G>A
• NM_001377279.1:c.2164G>A
• NM_001377280.1:c.2164G>A
• NP_000439.2:p.Glu722Lys
• NP_001364206.1:p.Glu722Lys
• NP_001364207.1:p.Glu722Lys
• NP_001364208.1:p.Glu722Lys
• NP_001364209.1:p.Glu722Lys
• LRG_98t1:c.2164G>A
• LRG_98:g.12456G>A
• NC_000011.9:g.36597018G>A
• NM_000448.3:c.2164G>A
• P15918:p.Glu722Lys

This HGVS expression did not pass validation

Protein change:

E722K; GLU722LYS

Links:

UniProtKB: P15918#VAR_007804; OMIM: 179615.0001; dbSNP: rs28933392

NCBI 1000 Genomes Browser:

rs28933392

Molecular consequence:

• NM_000448.3:c.2164G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001377277.1:c.2164G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001377278.1:c.2164G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001377279.1:c.2164G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001377280.1:c.2164G>A - missense variant - [Sequence Ontology: SO:0001583]

Observations:

3