Full data view for gene NIPA1

Information The variants shown are described using the NM_144599.4 transcript reference sequence.

42 entries on 1 page. Showing entries 1 - 42.
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Effect     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     

Allele     

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     

Template     

Technique     

Tissue     

Remarks     

Disease     

ID_report     

Reference     

Remarks     

Gender     

Consanguinity     

Country     

Population     

Age at death     

VIP     

Data_av     

Treatment     

Panel size     

Owner     
?/. - c.-25_*5550[2] r.= p.= Unknown - VUS g.(22500000_22756504)_(23088787_23100000)dup - g.22756504_23088787dup - CYFIP1_000005 - PubMed: Giugliano 2018 - - Germline - - - - - DNA arrayCGH - - MYOP Patient XVII PubMed: Giugliano 2018 - M - Italy - - - - - 1 Teresa Giugliano
?/. - c.39_47del r.(?) p.(Ala14_Ala16del) Unknown - VUS g.23086382_23086390del g.22786678_22786686del NIPA1(NM_144599.4):c.39_47del (p.(Ala14_Ala16del)), NIPA1(NM_144599.5):c.39_47delGGCGGCGGC (p.A14_A16del) - NIPA1_000014 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.39_47del r.(?) p.(Ala14_Ala16del) Unknown - likely benign g.23086382_23086390del - NIPA1(NM_144599.4):c.39_47del (p.(Ala14_Ala16del)), NIPA1(NM_144599.5):c.39_47delGGCGGCGGC (p.A14_A16del) - NIPA1_000014 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.42_47dup r.(?) p.(Ala15_Ala16dup) Unknown - VUS g.23086385_23086390dup g.22786678_22786683dup NIPA1(NM_001142275.1):c.-48+455_-48+456insGGCGGC (p.(=)), NIPA1(NM_144599.4):c.36_41dupGGCGGC (p.A15_A16dup), NIPA1(NM_144599.5):c.36_41dupGGCGGC ... - NIPA1_000011 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.42_47dup r.(?) p.(Ala15_Ala16dup) Unknown - likely benign g.23086385_23086390dup g.22786678_22786683dup NIPA1(NM_001142275.1):c.-48+455_-48+456insGGCGGC (p.(=)), NIPA1(NM_144599.4):c.36_41dupGGCGGC (p.A15_A16dup), NIPA1(NM_144599.5):c.36_41dupGGCGGC ... - NIPA1_000011 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.42_47dup r.(?) p.(Ala15_Ala16dup) Unknown - likely benign g.23086385_23086390dup g.22786678_22786683dup NIPA1(NM_001142275.1):c.-48+455_-48+456insGGCGGC (p.(=)), NIPA1(NM_144599.4):c.36_41dupGGCGGC (p.A15_A16dup), NIPA1(NM_144599.5):c.36_41dupGGCGGC ... - NIPA1_000011 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.42_47dup r.(?) p.(Ala15_Ala16dup) Unknown - likely benign g.23086385_23086390dup g.22786678_22786683dup NIPA1(NM_001142275.1):c.-48+455_-48+456insGGCGGC (p.(=)), NIPA1(NM_144599.4):c.36_41dupGGCGGC (p.A15_A16dup), NIPA1(NM_144599.5):c.36_41dupGGCGGC ... - NIPA1_000011 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.42_47dup r.(?) p.(Ala15_Ala16dup) Unknown - likely benign g.23086385_23086390dup - NIPA1(NM_001142275.1):c.-48+455_-48+456insGGCGGC (p.(=)), NIPA1(NM_144599.4):c.36_41dupGGCGGC (p.A15_A16dup), NIPA1(NM_144599.5):c.36_41dupGGCGGC ... - NIPA1_000011 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.45_47del r.(?) p.(Ala16del) Unknown - benign g.23086388_23086390del g.22786678_22786680del NIPA1(NM_001142275.1):c.-48+453_-48+455del (p.(=)), NIPA1(NM_144599.5):c.45_47delGGC (p.A16del) - NIPA1_000012 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.45_47del r.(?) p.(Ala16del) Unknown - benign g.23086388_23086390del g.22786678_22786680del NIPA1(NM_001142275.1):c.-48+453_-48+455del (p.(=)), NIPA1(NM_144599.5):c.45_47delGGC (p.A16del) - NIPA1_000017 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.45_47del r.(?) p.(Ala16del) Unknown - likely benign g.23086388_23086390del g.22786678_22786680del NIPA1(NM_001142275.1):c.-48+453_-48+455del (p.(=)), NIPA1(NM_144599.5):c.45_47delGGC (p.A16del) - NIPA1_000012 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.45_47del r.(?) p.(Ala16del) Unknown - benign g.23086388_23086390del - NIPA1(NM_001142275.1):c.-48+453_-48+455del (p.(=)), NIPA1(NM_144599.5):c.45_47delGGC (p.A16del) - NIPA1_000012 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.45_47dup r.(?) p.(Ala16dup) Unknown - VUS g.23086388_23086390dup g.22786678_22786680dup NIPA1(NM_144599.4):c.45_47dup (p.(Ala16dup)), NIPA1(NM_144599.4):c.45_47dupGGC (p.A16dup), NIPA1(NM_144599.5):c.45_47dupGGC (p.A16dup) - NIPA1_000013 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.45_47dup r.(?) p.(Ala16dup) Unknown - VUS g.23086388_23086390dup g.22786678_22786680dup NIPA1(NM_144599.4):c.45_47dup (p.(Ala16dup)), NIPA1(NM_144599.4):c.45_47dupGGC (p.A16dup), NIPA1(NM_144599.5):c.45_47dupGGC (p.A16dup) - NIPA1_000013 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.45_47dup r.(?) p.(Ala16dup) Unknown - likely benign g.23086388_23086390dup g.22786678_22786680dup NIPA1(NM_144599.4):c.45_47dup (p.(Ala16dup)), NIPA1(NM_144599.4):c.45_47dupGGC (p.A16dup), NIPA1(NM_144599.5):c.45_47dupGGC (p.A16dup) - NIPA1_000013 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.45_47dup r.(?) p.(Ala16dup) Unknown - likely benign g.23086388_23086390dup g.22786678_22786680dup NIPA1(NM_144599.4):c.45_47dup (p.(Ala16dup)), NIPA1(NM_144599.4):c.45_47dupGGC (p.A16dup), NIPA1(NM_144599.5):c.45_47dupGGC (p.A16dup) - NIPA1_000013 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.75C>T r.(?) p.(Pro25=) Unknown - likely benign g.23086337G>A g.22786731C>T NIPA1(NM_144599.4):c.75C>T (p.P25=) - NIPA1_000025 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.88_114dup r.(?) p.(Leu30_Ser38dup) Unknown - VUS g.23086305_23086331dup g.22786737_22786763dup NIPA1(NM_144599.4):c.88_114dupCTCGGCCTGGGCGTGGCCGTCGTGTCG (p.L30_S38dup) - NIPA1_000024 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.109G>A r.(?) p.(Val37Met) Unknown - likely benign g.23086303C>T - NIPA1(NM_144599.4):c.109G>A (p.(Val37Met)) - NIPA1_000032 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.134C>G r.(?) p.(Thr45Arg) Unknown ACMG pathogenic g.23086278G>C g.22786790C>G - - NIPA1_000029 ACMG grading: PS3,PS4,PM2,PP1,PP3; Zhao et al. 2008. J neuroscience 51: 13938; Botzolakis et al. 2011. Mol Cell Neurosci. 1: 122; Dz et al. 2011. Clin Neurol Neurosurg 6: 480; Rainier et al. 2003. Am J Hum Genet. 3: 967 - - rs104894496 Germline - - - - - DNA SEQ-NG-S - - ? - - - F - - - - - - - 1 Andreas Laner
?/. - c.139G>A r.(?) p.(Val47Met) Unknown - VUS g.23086273C>T - - - NIPA1_000030 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.242T>C r.(?) p.(Ile81Thr) Unknown - likely benign g.23060890A>G g.22812178T>C NIPA1(NM_144599.4):c.242T>C (p.(Ile81Thr)) - NIPA1_000018 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.242T>C r.(?) p.(Ile81Thr) Unknown - VUS g.23060890A>G - NIPA1(NM_144599.4):c.242T>C (p.(Ile81Thr)) - NIPA1_000018 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.257C>G r.(?) p.(Ala86Gly) Unknown - VUS g.23060875G>C g.22812193C>G - - NIPA1_000023 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.291C>G r.(?) p.(Pro97=) Unknown - likely benign g.23060841G>C g.22812227C>G NIPA1(NM_144599.5):c.291C>G (p.P97=) - NIPA1_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.291C>G r.(?) p.(Pro97=) Unknown - likely benign g.23060841G>C - NIPA1(NM_144599.5):c.291C>G (p.P97=) - NIPA1_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.312G>A r.(?) p.(Pro104=) Unknown - likely benign g.23060820C>T g.22812248G>A NIPA1(NM_144599.4):c.312G>A (p.P104=), NIPA1(NM_144599.5):c.312G>A (p.P104=) - NIPA1_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.312G>A r.(?) p.(Pro104=) Unknown - likely benign g.23060820C>T g.22812248G>A NIPA1(NM_144599.4):c.312G>A (p.P104=), NIPA1(NM_144599.5):c.312G>A (p.P104=) - NIPA1_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.312G>A r.(?) p.(Pro104=) Unknown - likely benign g.23060820C>T - NIPA1(NM_144599.4):c.312G>A (p.P104=), NIPA1(NM_144599.5):c.312G>A (p.P104=) - NIPA1_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.316G>A r.(?) p.Gly106Arg Unknown ACMG pathogenic g.23060816C>T g.22812252G>A - - NIPA1_000021 ACMG grading: PP5,PS3,PS1,PM2,PP1,PP3; reported in Chen 2005. HumMutat 25: 135; Svenstrup 2011. EurJNeurol 18: 1197; Hedera 2013. JNeurolSci 335: 231 Martinez-Lage 2012. Acta Neuropathol 124: 285 Zhao 2008. JNeurosci 28: 13938 - - rs104894490 Germline - - - - - DNA SEQ-NG - - - - - - M - Germany - - - - - 1 Andreas Laner
-/. - c.317+1421G>A r.(=) p.(=) Unknown - benign g.23059394C>T g.22813674G>A NIPA1(NM_144599.5):c.317+1421G>A - NIPA1_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.441A>G r.(?) p.(Thr147=) Unknown - benign g.23052632T>C g.22820436A>G NIPA1(NM_144599.5):c.441A>G (p.T147=) - NIPA1_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.441A>G r.(?) p.(Thr147=) Unknown - benign g.23052632T>C g.22820436A>G NIPA1(NM_144599.5):c.441A>G (p.T147=) - NIPA1_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.441A>G r.(?) p.(Thr147=) Unknown - benign g.23052632T>C g.22820436A>G NIPA1(NM_144599.5):c.441A>G (p.T147=) - NIPA1_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.484G>A r.(?) p.(Val162Met) Unknown - VUS g.23049335C>T g.22823733G>A NIPA1(NM_144599.5):c.484G>A (p.V162M) - NIPA1_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.537C>T r.(?) p.(Ile179=) Unknown - likely benign g.23049282G>A g.22823786C>T NIPA1(NM_144599.4):c.537C>T (p.I179=) - NIPA1_000022 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.607G>A r.(?) p.(Val203Met) Unknown - VUS g.23049212C>T - - - NIPA1_000031 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.731A>G r.(?) p.(Gln244Arg) Unknown - pathogenic g.23049088T>C g.22823980A>G - - NIPA1_000020 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.753G>C r.(?) p.(Ala251=) Unknown - likely benign g.23049066C>G g.22824002G>C NIPA1(NM_144599.4):c.753G>C (p.A251=) - NIPA1_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.801G>A r.(?) p.(Val267=) Unknown - likely benign g.23049018C>T g.22824050G>A NIPA1(NM_144599.4):c.801G>A (p.V267=) - NIPA1_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.*5331T>G r.(=) p.(=) Parent #1 - likely benign g.23043498A>C g.22829570T>G - - NIPA1_000028 3 heterozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs73412681 Germline - 3/2795 individuals - - - DNA arraySNP - Infinium Global Screening Array v1.0 ? - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - 3 Mohammed Faruq
-?/. - c.*5331T>G r.(=) p.(=) Both (homozygous) - likely benign g.23043498A>C g.22829570T>G - - NIPA1_000028 1 homozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs73412681 Germline - 1/2795 individuals - - - DNA arraySNP - Infinium Global Screening Array v1.0 ? - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - 1 Mohammed Faruq
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