Genomic variant #0000000228

Individual ID 00000084
Chromosome 11
Allele Unknown
Affects function (as reported) Effect unknown
Affects function (by curator) Not classified
Classification method -
Clinical classification VUS
DNA change (genomic) (Relative to hg19 / GRCh37) g.36596200G>A
DNA change (hg38) g.36574650G>A
Published as -
ISCN -
DB-ID RAG1_000021 See all 4 reported entries
Variant remarks -
Reference -
ClinVar ID -
dbSNP ID -
Origin Germline
Segregation -
Frequency -
Re-site -
VIP -
Methylation -
Average frequency (large NGS studies) 0.01023 View details
Owner Gerard C.P. Schaafsma
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
RAG1 NM_000448.2 ?/. - c.1346G>A r.(?) p.(Arg449Lys)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000000084 DNA SEQ-NG - - ADA, CPT1A, FKRP, GAA, GLB1, MYO5A, NHLRC1, NPHS1, RAG1, SERPINA1, SMPD1 11 Global Variome, with Curator vacancy