Unique variants in gene AIP

Information The variants shown are described using the NM_003977.2 transcript reference sequence.

16 entries on 1 page. Showing entries 1 - 16.
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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.26G>A likely pathogenic r.(?) p.(Arg9Gln) g.67250655G>A - AIP:c.26G>A (R9Q) - AIP_000001 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
-?/. 1 - c.36G>A likely benign r.(=) p.(=) g.67250665G>A - AIP:c.36G>A (=) - AIP_000002 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - - - VKGL-NL_VUmc
?/. 1 - c.47G>A VUS r.(?) p.(Arg16His) g.67250676G>A - AIP:c.47G>A (R16H) - AIP_000003 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
-?/. 2 - c.100-18C>T likely benign r.(=) p.(=) g.67254459C>T - AIP:c.100-18C>T - AIP_000004 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen, VKGL-NL_VUmc
-/. 2 - c.132C>T benign r.(=) p.(=) g.67254509C>T - AIP:c.132C>T (=) - AIP_000005 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht, VKGL-NL_VUmc
?/. 1 - c.429G>A VUS r.(=) p.(=) g.67256887G>A - AIP:c.429G>A (=) - AIP_000006 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
-?/. 1 - c.474G>A likely benign r.(=) p.(=) g.67257514G>A - AIP:c.474G>A (=) - AIP_000007 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - - - VKGL-NL_VUmc
-?/. 1 - c.516C>T likely benign r.(=) p.(=) g.67257556C>T - AIP:c.516C>T (=) - AIP_000008 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
-/. 2 - c.682C>A benign r.(?) p.(Gln228Lys) g.67257823C>A - AIP:c.682C>A (Q228K) - AIP_000009 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht, VKGL-NL_Groningen
+/. 1 - c.715C>T pathogenic r.(?) p.(Gln239*) g.67257856C>T - AIP:c.715C>T (Q239*) - AIP_000010 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
+?/. 1 - c.807C>T likely pathogenic r.(=) p.(=) g.67258278C>T - AIP:c.807C>T (=) - AIP_000011 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
+/. 1 - c.811C>T pathogenic r.(?) p.(Arg271Trp) g.67258282C>T - AIP:c.811C>T (R271W) - AIP_000012 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
-?/. 2 - c.896C>T likely benign r.(?) p.(Ala299Val) g.67258367C>T - AIP:c.896C>T (A299V) - AIP_000013 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht, VKGL-NL_VUmc
+/. 1 - c.910C>T pathogenic r.(?) p.(Arg304*) g.67258381C>T - AIP:c.910C>T (R304*) - AIP_000014 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
?/. 2 - c.911G>A VUS r.(?) p.(Arg304Gln) g.67258382G>A - AIP:c.911G>A (R304Q) - AIP_000015 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - - - VKGL-NL_VUmc, VKGL-NL_Rotterdam
-/. 1 - c.*60G>C benign r.(=) p.(=) g.67258524G>C - AIP:c.*60G>C - AIP_000016 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
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