Unique variants in the INPP5K gene

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

8 entries on 1 page. Showing entries 1 - 8.
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Effect     

Reported     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     

Classification method     

Clinical classification     

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.-587G>A r.(?) p.(=) - likely benign g.1419762C>T g.1516468C>T INPP5K(NM_001135642.1):c.-587G>A (p.(=)) - INPP5K_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
?/. 1 - c.-143C>G r.(?) p.(=) - VUS g.1417232G>C g.1513938G>C INPP5K(NM_016532.4):c.86C>G (p.P29R) - INPP5K_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
-?/. 1 - c.-77+8T>A r.(=) p.(=) - likely benign g.1417158A>T - INPP5K(NM_001135642.1):c.-77+8T>A - INPP5K_000008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. 1 - c.232A>G r.(?) p.(Ile78Val) - likely benign g.1412566T>C g.1509272T>C INPP5K(NM_001135642.1):c.232A>G (p.(Ile78Val)) - INPP5K_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-?/. 1 - c.269G>A r.(?) p.(Arg90Gln) - likely benign g.1412529C>T g.1509235C>T INPP5K(NM_001135642.1):c.269G>A (p.R90Q) - INPP5K_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. 1 - c.415G>A r.(?) p.(Gly139Ser) - VUS g.1411432C>T g.1508138C>T INPP5K(NM_001135642.1):c.415G>A (p.G139S) - INPP5K_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. 2 - c.465G>A r.(?) p.(Pro155=) - likely benign g.1410357C>T g.1507063C>T INPP5K(NM_001135642.1):c.465G>A (p.P155=), INPP5K(NM_001135642.2):c.465G>A (p.P155=) - INPP5K_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam, VKGL-NL_Utrecht
-?/. 1 - c.912C>T r.(?) p.(Ala304=) - likely benign g.1399658G>A - INPP5K(NM_001135642.1):c.912C>T (p.A304=) - INPP5K_000010 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
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