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NM_000448.3(RAG1):c.2564A>T (p.Asn855Ile) AND not provided

Germline classification:
not provided (1 submission)
Review status:
no classification provided
Somatic classification
of clinical impact:
None
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Somatic classification
of oncogenicity:
None
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Record status:
current
Accession:
RCV000059572.1

Allele description [Variation Report for NM_000448.3(RAG1):c.2564A>T (p.Asn855Ile)]

NM_000448.3(RAG1):c.2564A>T (p.Asn855Ile)

Gene:
RAG1:recombination activating 1 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
11p12
Genomic location:
Preferred name:
NM_000448.3(RAG1):c.2564A>T (p.Asn855Ile)
HGVS:
  • NC_000011.10:g.36575868A>T
  • NG_007528.1:g.12856A>T
  • NM_000448.3:c.2564A>TMANE SELECT
  • NM_001377277.1:c.2564A>T
  • NM_001377278.1:c.2564A>T
  • NM_001377279.1:c.2564A>T
  • NM_001377280.1:c.2564A>T
  • NP_000439.1:p.Asn855Ile
  • NP_000439.2:p.Asn855Ile
  • NP_001364206.1:p.Asn855Ile
  • NP_001364207.1:p.Asn855Ile
  • NP_001364208.1:p.Asn855Ile
  • NP_001364209.1:p.Asn855Ile
  • LRG_98t1:c.2564A>T
  • LRG_98:g.12856A>T
  • LRG_98p1:p.Asn855Ile
  • NC_000011.9:g.36597418A>T
  • NM_000448.2:c.2564A>T
  • P15918:p.Asn855Ile
Protein change:
N855I
Links:
UniProtKB: P15918#VAR_025986; UniProtKB/Swiss-Prot: VAR_025986; dbSNP: rs199474690
NCBI 1000 Genomes Browser:
rs199474690
Molecular consequence:
  • NM_000448.3:c.2564A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001377277.1:c.2564A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001377278.1:c.2564A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001377279.1:c.2564A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001377280.1:c.2564A>T - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Synonyms:
none provided
Identifiers:
MedGen: CN517202

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000091104UniProtKB/Swiss-Prot
no classification provided
not providednot providednot provided

PubMed (1)
[See all records that cite this PMID]

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providednot providednot providednot providednot providednot provided1not providedliterature only

Citations

PubMed

V(D)J recombination defects in lymphocytes due to RAG mutations: severe immunodeficiency with a spectrum of clinical presentations.

Villa A, Sobacchi C, Notarangelo LD, Bozzi F, Abinun M, Abrahamsen TG, Arkwright PD, Baniyash M, Brooks EG, Conley ME, Cortes P, Duse M, Fasth A, Filipovich AM, Infante AJ, Jones A, Mazzolari E, Muller SM, Pasic S, Rechavi G, Sacco MG, Santagata S, et al.

Blood. 2001 Jan 1;97(1):81-8.

PubMed [citation]
PMID:
11133745

Details of each submission

From UniProtKB/Swiss-Prot, SCV000091104.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providednot provided PubMed (1)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1not providednot provided1not providednot providednot providednot providednot providednot provided

Last Updated: Apr 23, 2022