Unique variants in gene AIP

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

20 entries on 1 page. Showing entries 1 - 20.
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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(NM_003977.2):c.26G>A (p.R9Q) - AIP_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-?/. 2 - c.36G>A likely benign r.(?) p.(=) g.67250665G>A - AIP(NM_003977.2):c.36G>A (p.=) - AIP_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam, VKGL-NL_VUmc
?/. 1 - c.47G>A VUS r.(?) p.(Arg16His) g.67250676G>A - AIP(NM_003977.2):c.47G>A (p.R16H) - AIP_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-?/. 1 - c.68G>A likely benign r.(?) p.(Gly23Glu) g.67250697G>A - AIP(NM_003977.2):c.68G>A (p.G23E) - AIP_000017 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-?/. 2 - c.100-18C>T likely benign r.(=) p.(=) g.67254459C>T - AIP(NM_003977.2):c.100-18C>T - AIP_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen, VKGL-NL_VUmc
-/. 2 - c.132C>T benign r.(?) p.(=) g.67254509C>T - AIP(NM_003977.2):c.132C>T (p.=) - AIP_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht, VKGL-NL_VUmc
-?/. 1 - c.228C>T likely benign r.(?) p.(=) g.67254605C>T - AIP(NM_003977.2):c.228C>T (p.I76=) - AIP_000018 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
?/. 1 - c.429G>A VUS r.(?) p.(=) g.67256887G>A - AIP(NM_003977.2):c.429G>A (p.Q143=) - AIP_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-?/. 1 - c.474G>A likely benign r.(?) p.(=) g.67257514G>A - AIP(NM_003977.2):c.474G>A (p.=) - AIP_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-?/. 1 - c.516C>T likely benign r.(?) p.(=) g.67257556C>T - AIP(NM_003977.2):c.516C>T (p.D172=) - AIP_000008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-/. 2 - c.682C>A benign r.(?) p.(Gln228Lys) g.67257823C>A - AIP(NM_003977.2):c.682C>A (p.Q228K) - AIP_000009 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht, VKGL-NL_Groningen
+/. 1 - c.715C>T pathogenic r.(?) p.(Gln239*) g.67257856C>T - AIP(NM_003977.2):c.715C>T (p.Q239*) - AIP_000010 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
?/. 2 - c.807C>T VUS r.(?) p.(=) g.67258278C>T - AIP(NM_001302960.1):c.799C>T (p.Q267*) - AIP_000011 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen, VKGL-NL_Groningen
+/. 1 - c.811C>T pathogenic r.(?) p.(Arg271Trp) g.67258282C>T - AIP(NM_003977.2):c.811C>T (p.R271W) - AIP_000012 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-?/., ?/. 4 - c.896C>T likely benign, VUS r.(?) p.(Ala299Val) g.67258367C>T - AIP(NM_003977.2):c.896C>T (p.A299V) - AIP_000013 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht, VKGL-NL_Rotterdam, VKGL-NL_Leiden, VKGL-NL_VUmc
+/. 1 - c.910C>T pathogenic r.(?) p.(Arg304*) g.67258381C>T - AIP(NM_003977.2):c.910C>T (p.R304*) - AIP_000014 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-?/., ?/. 3 - c.911G>A likely benign, VUS r.(?) p.(Arg304Gln) g.67258382G>A - AIP(NM_003977.2):c.911G>A (p.R304Q) - AIP_000015 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen, VKGL-NL_VUmc, VKGL-NL_Rotterdam
-/. 2 - c.920A>G benign r.(?) p.(Gln307Arg) g.67258391A>G - AIP(NM_003977.2):c.920A>G (p.Q307R) - AIP_000019 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen, VKGL-NL_Utrecht
-/. 1 - c.*60G>C benign r.(=) p.(=) g.67258524G>C - AIP(NM_003977.2):c.*60G>C - AIP_000016 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-?/. 1 - c.*4612G>A likely benign r.(=) p.(=) g.67263076G>A - PITPNM1(NM_001130848.1):c.2315-3C>T (p.?) - AIP_000020 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
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