Unique variants in the IL3RA gene

Information The variants shown are described using the NM_001267713.1 transcript reference sequence.

5 entries on 1 page. Showing entries 1 - 5.
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Effect     

Reported     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     

Classification method     

Clinical classification     

DNA change (genomic) (hg19)     

DNA change (hg38)     

Published as     

ISCN     

DB-ID     

Variant remarks     

Reference     

ClinVar ID     

dbSNP ID     

Origin     

Segregation     

Frequency     

Re-site     

VIP     

Methylation     

Owner     
-?/. 1 - c.-38-67A>G r.(=) p.(=) - likely benign g.1460554A>G - IL3RA:c.-38-67A>G - IL3RA_000005 - PubMed: Maranhao 2015 - - Germline - 11/25 families - - - -
+/. 1 - c.64+3486G>C r.(=) p.(=) - pathogenic g.1464208G>C - IL3RA(NM_002183.3):c.65-1G>C - IL3RA_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
-?/. 1 - c.114C>T r.(?) p.(Asp38=) - likely benign g.1471042C>T - IL3RA(NM_002183.3):c.348C>T (p.D116=) - IL3RA_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. 1 - c.732C>T r.(?) p.(Phe244=) - likely benign g.1497643C>T - IL3RA(NM_002183.3):c.966C>T (p.F322=) - IL3RA_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. 1 - c.*4857G>C r.(=) p.(=) - VUS g.1506215G>C - SLC25A6(NM_001636.3):c.696C>G (p.D232E) - IL3RA_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
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