Full data view for gene AIP

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

31 entries on 1 page. Showing entries 1 - 31.
Legend  

Effect     

Exon     

AscendingDNA change (cDNA)     

ClassClinical     

RNA change     

Protein     

Allele     

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     

Template     

Technique     

Tissue     

Remarks     

Disease     

ID_report     

Reference     

Remarks     

Gender     

Consanguinity     

Country     

Population     

Age/Death     

VIP     

Data_av     

Treatment     

Panel size     

Owner     
+?/. - c.26G>A likely pathogenic r.(?) p.(Arg9Gln) Unknown g.67250655G>A - AIP(NM_003977.2):c.26G>A (p.R9Q) - AIP_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.36G>A likely benign r.(?) p.(=) Unknown g.67250665G>A - AIP(NM_003977.2):c.36G>A (p.=) - AIP_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.36G>A likely benign r.(?) p.(=) Unknown g.67250665G>A - AIP(NM_003977.2):c.36G>A (p.=) - AIP_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.47G>A VUS r.(?) p.(Arg16His) Unknown g.67250676G>A - AIP(NM_003977.2):c.47G>A (p.R16H) - AIP_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.68G>A likely benign r.(?) p.(Gly23Glu) Unknown g.67250697G>A - AIP(NM_003977.2):c.68G>A (p.G23E) - AIP_000017 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.100-18C>T likely benign r.(=) p.(=) Unknown g.67254459C>T - AIP(NM_003977.2):c.100-18C>T - AIP_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.100-18C>T likely benign r.(=) p.(=) Unknown g.67254459C>T - AIP(NM_003977.2):c.100-18C>T - AIP_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-/. - c.132C>T benign r.(?) p.(=) Unknown g.67254509C>T - AIP(NM_003977.2):c.132C>T (p.=) - AIP_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-/. - c.132C>T benign r.(?) p.(=) Unknown g.67254509C>T - AIP(NM_003977.2):c.132C>T (p.=) - AIP_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.228C>T likely benign r.(?) p.(=) Unknown g.67254605C>T - AIP(NM_003977.2):c.228C>T (p.I76=) - AIP_000018 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.429G>A VUS r.(?) p.(=) Unknown g.67256887G>A - AIP(NM_003977.2):c.429G>A (p.Q143=) - AIP_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.474G>A likely benign r.(?) p.(=) Unknown g.67257514G>A - AIP(NM_003977.2):c.474G>A (p.=) - AIP_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.516C>T likely benign r.(?) p.(=) Unknown g.67257556C>T - AIP(NM_003977.2):c.516C>T (p.D172=) - AIP_000008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-/. - c.682C>A benign r.(?) p.(Gln228Lys) Unknown g.67257823C>A - AIP(NM_003977.2):c.682C>A (p.Q228K) - AIP_000009 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-/. - c.682C>A benign r.(?) p.(Gln228Lys) Unknown g.67257823C>A - AIP(NM_003977.2):c.682C>A (p.Q228K) - AIP_000009 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
+/. - c.715C>T pathogenic r.(?) p.(Gln239*) Unknown g.67257856C>T - AIP(NM_003977.2):c.715C>T (p.Q239*) - AIP_000010 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
?/. - c.807C>T VUS r.(?) p.(=) Unknown g.67258278C>T - AIP(NM_001302960.1):c.799C>T (p.Q267*) - AIP_000011 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
?/. - c.807C>T VUS r.(?) p.(=) Unknown g.67258278C>T - AIP(NM_001302960.1):c.799C>T (p.Q267*) - AIP_000011 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.811C>T pathogenic r.(?) p.(Arg271Trp) Unknown g.67258282C>T - AIP(NM_003977.2):c.811C>T (p.R271W) - AIP_000012 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.896C>T likely benign r.(?) p.(Ala299Val) Unknown g.67258367C>T - AIP(NM_003977.2):c.896C>T (p.A299V) - AIP_000013 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.896C>T likely benign r.(?) p.(Ala299Val) Unknown g.67258367C>T - AIP(NM_003977.2):c.896C>T (p.A299V) - AIP_000013 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.896C>T likely benign r.(?) p.(Ala299Val) Unknown g.67258367C>T - AIP(NM_003977.2):c.896C>T (p.A299V) - AIP_000013 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.896C>T VUS r.(?) p.(Ala299Val) Unknown g.67258367C>T - AIP(NM_003977.2):c.896C>T (p.A299V) - AIP_000013 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.910C>T pathogenic r.(?) p.(Arg304*) Unknown g.67258381C>T - AIP(NM_003977.2):c.910C>T (p.R304*) - AIP_000014 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
?/. - c.911G>A VUS r.(?) p.(Arg304Gln) Unknown g.67258382G>A - AIP(NM_003977.2):c.911G>A (p.R304Q) - AIP_000015 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
?/. - c.911G>A VUS r.(?) p.(Arg304Gln) Unknown g.67258382G>A - AIP(NM_003977.2):c.911G>A (p.R304Q) - AIP_000015 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.911G>A likely benign r.(?) p.(Arg304Gln) Unknown g.67258382G>A - AIP(NM_003977.2):c.911G>A (p.R304Q) - AIP_000015 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.920A>G benign r.(?) p.(Gln307Arg) Unknown g.67258391A>G - AIP(NM_003977.2):c.920A>G (p.Q307R) - AIP_000019 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.920A>G benign r.(?) p.(Gln307Arg) Unknown g.67258391A>G - AIP(NM_003977.2):c.920A>G (p.Q307R) - AIP_000019 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.*60G>C benign r.(=) p.(=) Unknown g.67258524G>C - AIP(NM_003977.2):c.*60G>C - AIP_000016 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.*4612G>A likely benign r.(=) p.(=) Unknown g.67263076G>A - PITPNM1(NM_001130848.1):c.2315-3C>T (p.?) - AIP_000020 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
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