Full data view for gene ATP11A

Information The variants shown are described using the NM_015205.2 transcript reference sequence.

30 entries on 1 page. Showing entries 1 - 30.
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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.40-5545_40-5544del r.(=) p.(=) Unknown - likely benign g.113433904_113433905del - ATP11A(NM_015205.3):c.40-5545_40-5544del - ATP11A_000008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.238A>G - p.Ile80Val Unknown - NA g.113459346A>G g.112805032A>G - - ATP11A_000024 in vitro expression shows no effect on correct protein sorting and targeting PubMed: Sun 2020 - - In vitro (cloned) - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.238_239delinsCC - p.Ile80Pro Unknown - NA g.113459346_113459347delinsCC g.112805032_112805033delinsCC - - ATP11A_000023 in vitro expression shows no effect on correct protein sorting and targeting PubMed: Sun 2020 - - In vitro (cloned) - - - - - - - - - - - - - - - - - - - - - - -
+/. 3 c.250C>G r.250C>G p.Gln84Glu Unknown - likely pathogenic (dominant) g.113459358C>G g.112805044C>G - - ATP11A_000019 - PubMed: Segawa 2021 - - De novo - - - - - DNA, RNA RT-PCR, SEQ, SEQ-NG - WES NDD patient PubMed: Segawa 2021 2-generation family, 1 affected, unaffected non-carrier parents M - Japan - - - - - 1 Johan den Dunnen
-?/. - c.253-433G>A r.(=) p.(=) Unknown - likely benign g.113460094G>A - ATP11A(NM_015205.3):c.253-433G>A - ATP11A_000009 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.341A>G r.(?) p.(Glu114Gly) Unknown - likely pathogenic (dominant) g.113464940A>G g.112810626A>G - - ATP11A_000027 - PubMed: Calianese 2024 - - De novo - - - - - DNA SEQ, SEQ-NG - WES NDD Pat3 PubMed: Calianese 2024 2-generation family, 1 affected, unaffected non-carrier parents M - United States - - - - - 1 Johan den Dunnen
-?/. - c.725+737C>T r.(=) p.(=) Unknown ACMG likely benign g.113475001C>T - - - ATP11A_000003 An in vitro splice assay (minigene) was performed and excluded aberrant splicing. PubMed: Bonsch 2009, Journal: Vona 2023 - - Germline/De novo (untested) ? - - - - DNA SEQ-NG-I - Genome sequencing DFNA DFNA33_Affected PubMed: Bonsch 2009 4-generation family, 8 affected (3F, 5M) F;M no Germany - - - - - 8 Barbara Vona
-?/. - c.725+1653G>A r.(=) p.(=) Unknown - likely benign g.113475917G>A - ATP11A(NM_015205.3):c.725+1653G>A - ATP11A_000010 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.899_900delinsTC - p.Tyr300Phe Unknown - NA g.113479770_113479771delinsTC g.112825456_112825457delinsTC - - ATP11A_000025 in vitro expression shows reduced ATP11A expression, incorrect subcellular protein localisation and reduced PS internalization in plasma membrane PubMed: Sun 2020 - - In vitro (cloned) - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1036T>G r.(?) p.(Phe346Val) Unknown - VUS g.113481020T>G - - - ATP11A_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.1196C>T r.(?) p.(Ser399Leu) Unknown - likely pathogenic (dominant) g.113481180C>T g.112826866C>T - - ATP11A_000028 - PubMed: Calianese 2024 - - De novo - - - - - DNA SEQ, SEQ-NG - WES NDD Pat1 PubMed: Calianese 2024 2-generation family, 1 affected, unaffected non-carrier parents M - Canada - - - - - 1 Johan den Dunnen
+?/. - c.1196C>T r.(?) p.(Ser399Leu) Unknown - likely pathogenic (dominant) g.113481180C>T g.112826866C>T - - ATP11A_000028 - PubMed: Calianese 2024 - - De novo - - - - - DNA SEQ, SEQ-NG - WES NDD Pat2 PubMed: Calianese 2024 2-generation family, 1 affected, unaffected non-carrier parents F - Hungary - - - - - 1 Johan den Dunnen
?/. - c.1222G>A r.(?) p.(Val408Met) Unknown - VUS g.113485689G>A - ATP11A(NM_015205.3):c.1222G>A (p.(Val408Met)) - ATP11A_000014 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.2225C>G r.(?) p.(Thr742Ser) Unknown - VUS g.113508826C>G - - - ATP11A_000013 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.2521+9C>T r.(=) p.(=) Unknown - likely benign g.113512243C>T - ATP11A(NM_015205.3):c.2521+9C>T - ATP11A_000015 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.2670C>T r.(?) p.(Asn890=) Unknown - likely benign g.113513709C>T g.112859395C>T ATP11A(NM_015205.2):c.2670C>T (p.(=)) - ATP11A_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.2737_2739delinsAAG - p.Asp913Lys Unknown - NA g.113514610_113514612delinsAAG g.112860296_112860298delinsAAG - - ATP11A_000026 in vitro expression shows incorrect subcellular protein localisation and reduced PS internalization in plasma membrane PubMed: Sun 2020 - - In vitro (cloned) - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.2863G>A r.(?) p.(Ala955Thr) Unknown - likely benign g.113516761G>A - ATP11A(NM_015205.3):c.2863G>A (p.(Ala955Thr)) - ATP11A_000016 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.3058-422del r.(=) p.(=) Unknown - likely benign g.113527465del - ATP11A(NM_015205.3):c.3058-422del - ATP11A_000011 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.3058-235G>A r.(=) p.(=) Unknown - likely benign g.113527652G>A - ATP11A(NM_015205.3):c.3058-235G>A - ATP11A_000012 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.3244_3245del r.(?) p.(Leu1082Glyfs*29) Unknown - VUS g.113530172_113530173del - ATP11A(NM_015205.2):c.3244_3245delCT (p.(Leu1082fs)) - ATP11A_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.3247G>C r.(?) p.(Val1083Leu) Unknown - VUS g.113530175G>C - ATP11A(NM_015205.2):c.3247G>C (p.(Val1083Leu)) - ATP11A_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.3293G>A r.(?) p.(Arg1098Gln) Unknown - VUS g.113530221G>A - - - ATP11A_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 28_28i c.3322_3327+2dup r.(3327_3328insGTGTCCAG) p.(Thr1110ValfsTer26) Maternal (confirmed) - pathogenic (dominant) g.113530250_113530257dup g.112875936_112875943dup - - ATP11A_000020 effect on RNA predicted from mini-gene splicing assay PubMed: Pater 2022 - - Germline yes - - - - DNA SEQ, SEQ-NG - - HL FamA-HL1515PatII2 PubMed: Pater 2022 3-generation family, 5 affected (4F, M) F no Israel Uzbekistan;jew - - - - 5 Johan den Dunnen
+/. 28_28i c.3322_3327+2dup r.(3327_3328insGTGTCCAG) p.(Thr1110ValfsTer26) Maternal (inferred) - pathogenic (dominant) g.113530250_113530257dup g.112875936_112875943dup - - ATP11A_000020 effect on RNA predicted from mini-gene splicing assay PubMed: Pater 2022 - - Germline yes - - - - DNA SEQ, SEQ-NG - - HL FamBPatIV1 PubMed: Pater 2022 4-generation family, 11 affected (3F, 8M) F - Israel Afghanistan - - - - 11 Johan den Dunnen
+/. 28i_30 c.3328-494_*1354delinsAA r.3328_*1527del p.Thr1110GlufsTer39 Paternal (confirmed) - pathogenic (dominant) g.113532037_113537534delinsAA g.112877723_112883220delinsAA hg38 112877723–112883221del - ATP11A_000022 - PubMed: Chepurwar 2023 - - Germline yes - - - - DNA SEQ, SEQ-NG - WGS HL family PubMed: Chepurwar 2023 2-generation family, 11 affected (8F, 4M) F;M no Germany - - - - - 11 Johan den Dunnen
?/. - c.*9+4A>T r.spl? p.? Unknown - VUS g.113532621A>T - ATP11A(NM_015205.3):c.*9+4A>T - ATP11A_000017 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.*10-1227G>A r.*9_*10insins*10-1330_*10-1074 p.? Paternal (confirmed) ACMG likely pathogenic (dominant) g.113534963G>A g.112880649G>A - - ATP11A_000021 ACMG PM2, PP1_S, PP3; effect on splicing described for other reference RNA transcripts (ENST00000415301.1), i.e. variant last nucleotide of exon (*10-1227G>A) causes loss of splice donor site activating donor site at *10-1074 PubMed: Pater 2022 - - Germline yes - - - - DNA arraySNP, RT-PCR, SEQ, SEQ-NG - WGS HL FamNFPatIV7 PubMed: Pater 2022 6-generation family, 20 affected (10F,10 M) M no Canada Europe-N - - - - 20 Johan den Dunnen
-?/. - c.*17del r.(?) p.(=) Unknown - likely benign g.113536197del - ATP11A(NM_032189.4):c.3395del (p.(Gly1132Alafs*19)) - ATP11A_000018 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.*63_*64del r.(=) p.(=) Unknown - likely benign g.113536243_113536244del - ATP11A(NM_032189.4):c.3441_3442del (p.(Gln1148AlafsTer36)) - ATP11A_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
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