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NM_000448.2(RAG1):c.2210G>A (p.Arg737His)

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Interpretation:
Pathogenic​

Review status:
no assertion criteria provided
Submissions:
1 (Most recent: Dec 30, 2010)
Last evaluated:
May 29, 1998
Accession:
VCV000013149.1
Variation ID:
13149
Description:
single nucleotide variant
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NM_000448.2(RAG1):c.2210G>A (p.Arg737His)

Allele ID
28188
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
11p12
Genomic location
11: 36575514 (GRCh38) GRCh38 UCSC
11: 36597064 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000011.9:g.36597064G>A
NC_000011.10:g.36575514G>A
NM_000448.2:c.2210G>A NP_000439.1:p.Arg737His missense
... more HGVS
Protein change
R737H
Other names
-
Functional consequence
-
Global minor allele frequency (GMAF)
0.00020 (A)

Allele frequency
The Genome Aggregation Database (gnomAD), exomes 0.00004
1000 Genomes Project 0.00020
Trans-Omics for Precision Medicine (TOPMed) 0.00002
The Genome Aggregation Database (gnomAD) 0.00003
Exome Aggregation Consortium (ExAC) 0.00002
Links
dbSNP: rs104894286
UniProtKB: P15918#VAR_008891
OMIM: 179615.0011
OMIM: 179615.0019
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Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Pathogenic 1 no assertion criteria provided May 29, 1998 RCV000014032.24
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Gene OMIM ClinGen Gene Dosage Sensitivity Curation Variation viewer Related variants
HI score Help TS score Help Within gene All
RAG1 - - GRCh38
GRCh37
164 190

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Pathogenic
(May 29, 1998)
no assertion criteria provided
Method: literature only
OMENN SYNDROME
Allele origin: germline
OMIM
Accession: SCV000034279.1
Submitted: (Dec 30, 2010)
Evidence details
Publications
PubMed (1)

Citations for this variant

Title Author Journal Year Link
Partial V(D)J recombination activity leads to Omenn syndrome. Villa A Cell 1998 PMID: 9630231

Record last updated May 09, 2019