All variants in the LIPN gene

Information The variants shown are described using the NM_001102469.1 transcript reference sequence.

13 entries on 1 page. Showing entries 1 - 13.
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Effect     

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     
?/. - c.178C>T r.(?) p.(Leu60Phe) - VUS g.90522014C>T - LIPN(NM_001102469.2):c.178C>T (p.(Leu60Phe)) - LIPN_000014 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-?/. - c.227-6C>G r.(=) p.(=) - likely benign g.90524161C>G g.88764404C>G LIPN(NM_001102469.2):c.227-6C>G - LIPN_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-?/. - c.293A>T r.(?) p.(Tyr98Phe) - likely benign g.90524233A>T g.88764476A>T LIPN(NM_001102469.1):c.293A>T (p.Y98F) - LIPN_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
-/. - c.297T>C r.(?) p.(Ala99=) - benign g.90524237T>C g.88764480T>C LIPN(NM_001102469.2):c.297T>C (p.A99=) - LIPN_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
?/. - c.302del r.(?) p.(Gly101Glufs*7) - VUS g.90524242del - LIPN(NM_001102469.2):c.302del (p.(Gly101Glufs*7)) - LIPN_000012 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-/. - c.395C>T r.(?) p.(Ser132Leu) - benign g.90524335C>T - LIPN(NM_001102469.1):c.395C>T (p.S132L) - LIPN_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
?/. - c.599G>A r.(?) p.(Gly200Asp) - VUS g.90528612G>A - LIPN(NM_001102469.2):c.599G>A (p.(Gly200Asp)) - LIPN_000013 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
?/. - c.683G>C r.(?) p.(Gly228Ala) - VUS g.90530612G>C - LIPN(NM_001102469.2):c.683G>C (p.(Gly228Ala)) - LIPN_000015 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
+?/. - c.703G>T r.(?) p.(Glu235*) - likely pathogenic g.90530632G>T - LIPN(NM_001102469.2):c.703G>T (p.E235*) - LIPN_000011 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
-/. - c.731C>A r.(?) p.(Thr244Asn) - benign g.90530660C>A g.88770903C>A LIPN(NM_001102469.2):c.731C>A (p.T244N) - LIPN_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
-?/. - c.772G>A r.(?) p.(Glu258Lys) - likely benign g.90530701G>A g.88770944G>A LIPN(NM_001102469.1):c.772G>A (p.E258K), LIPN(NM_001102469.2):c.772G>A (p.(Glu258Lys)) - LIPN_000008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. - c.772G>A r.(?) p.(Glu258Lys) - likely benign g.90530701G>A - LIPN(NM_001102469.1):c.772G>A (p.E258K), LIPN(NM_001102469.2):c.772G>A (p.(Glu258Lys)) - LIPN_000008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-?/. - c.819+6T>C r.(=) p.(=) - likely benign g.90530754T>C g.88770997T>C LIPN(NM_001102469.1):c.819+6T>C (p.(=)) - LIPN_000009 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
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