Unique variants in the ITM2A gene

Information The variants shown are described using the NM_004867.4 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     
-?/., ?/. 2 2 c.215C>T r.(?) A72V, p.(Ala72Val) - likely benign, VUS g.78618948G>A g.79363451G>A A72V, ITM2A(NM_004867.4):c.215C>T (p.(Ala72Val)) - ITM2A_000002 recurrent, found 5 times, VKGL data sharing initiative Nederland PubMed: Tarpey 2009 - - CLASSIFICATION record, Germline - 5/208 cases - - - Lucy Raymond, VKGL-NL_Leiden
-?/. 1 - c.250A>G r.(?) p.(Ile84Val) - likely benign g.78618630T>C g.79363133T>C ITM2A(NM_004867.4):c.250A>G (p.I84V) - ITM2A_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. 1 - c.289C>A r.(?) p.(Pro97Thr) - likely benign g.78618591G>T - ITM2A(NM_004867.4):c.289C>A (p.P97T) - ITM2A_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. 1 5 c.606G>A r.(?) p.(=) - likely benign g.78616923C>T g.79361426C>T V202V - ITM2A_000001 found once, nonrecurrent change PubMed: Tarpey 2009 - - Germline - 1/208 cases - - - Lucy Raymond
?/. 1 - c.616C>T r.(?) p.(Arg206Cys) - VUS g.78616913G>A - ITM2A(NM_004867.4):c.616C>T (p.R206C) - ITM2A_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
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