Unique variants in gene IPO11

Information The variants shown are described using the NM_016338.4 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.-7+6199G>T likely benign r.(=) p.(=) g.61714955G>T - IPO11:NM_001134779.1:c.114+1G>T, NM_016338.4:c.-7+6199G>T - IPO11_000001 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-?/. 1 - c.2583-10905del likely benign r.(=) p.(=) g.61876499del - IPO11:NM_001134779.1:c.2703-10905del, NM_016338.4:c.2583-10905del, … - IPO11_000002 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
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