Unique variants in gene PELO

Information The variants shown are described using the NM_015946.4 transcript reference sequence.

2 entries on 1 page. Showing entries 1 - 2.
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Effect     

Reported     

Exon     

AscendingDNA change (cDNA)     

ClassClinical     

RNA change     

Protein     

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.*121039A>C VUS r.(=) p.(=) g.52218713A>C - ITGA1(NM_181501.1):c.2399A>C (p.(Glu800Ala)) - ITGA1_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-?/. 1 - c.*143176C>A likely benign r.(=) p.(=) g.52240850C>A - ITGA1(NM_181501.1):c.3363C>A (p.(Ser1121Arg)) - ITGA1_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
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