Full data view for gene ATP11C

Information The variants shown are described using the NM_173694.4 transcript reference sequence.

34 entries on 1 page. Showing entries 1 - 34.
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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.50_58del r.(?) p.(Glu17_Arg19del) Unknown - VUS g.138908963_138908971del - ATP11C(NM_173694.4):c.50_58delAGAAACGAG (p.E17_R19del) - ATP11C_000039 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.342T>G - p.(Cys114Trp) Maternal (inferred) - VUS g.138897130A>C g.139814971A>C - - ATP11C_000003 Variant Error [EMISMATCH/EREF]: This transcript variant does not match the reference sequence. Please fix this entry and then remove this message. - - - Germline - - - - - DNA SEQ-NG-I - - CHTE - PubMed: Sun 2011, Journal: Sun 2011 - M no Netherlands - - 0 - - 1 Yu Sun
?/. - c.342T>G - p.(Cys114Trp) Maternal (inferred) - VUS g.138897130A>C g.139814971A>C - - ATP11C_000003 Variant Error [EMISMATCH/EREF]: This transcript variant does not match the reference sequence. Please fix this entry and then remove this message. - - - Germline - - - - - DNA SEQ-NG-I - - CHTE - PubMed: Sun 2011, Journal: Sun 2011 - M no Netherlands - - 0 - - 1 Yu Sun
?/. 5 c.342T>G r.(?) p.(Cys114Trp) Parent #1 - VUS g.138897130A>C - C114W - ATP11C_000003 recurrent, found 155 times Variant Error [EMISMATCH/EREF]: This transcript variant does not match the reference sequence. Please fix this entry and then remove this message. PubMed: Tarpey 2009 - - Germline - 155/208 cases - 0 - DNA SEQ - - MRX;IDX 19377476-Pat? PubMed: Tarpey 2009 - M - - - - 0 for details contact Lucy Raymond (flr24 @ cam.ac.uk) - 155 Lucy Raymond
-?/. - c.580C>T r.(?) p.(Arg194Cys) Unknown - likely benign g.138884483G>A g.139802324G>A ATP11C(NM_001010986.3):c.580C>T (p.R194C), ATP11C(NM_173694.4):c.580C>T (p.R194C) - ATP11C_000025 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.580C>T r.(?) p.(Arg194Cys) Unknown - likely benign g.138884483G>A - ATP11C(NM_001010986.3):c.580C>T (p.R194C), ATP11C(NM_173694.4):c.580C>T (p.R194C) - ATP11C_000025 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.719+47del r.(=) p.(=) Unknown - VUS g.138882172del g.139800013del - - ATP11C_000018 - - - - Germline - - - - - DNA SEQ-NG-I - - CHTE - PubMed: Sun 2011, Journal: Sun 2011 - M no Netherlands - - 0 - - 1 Yu Sun
?/. - c.719+47del r.(=) p.(=) Unknown - VUS g.138882172del g.139800013del - - ATP11C_000018 - - - - Germline - - - - - DNA SEQ-NG-I - - CHTE - PubMed: Sun 2011, Journal: Sun 2011 - M no Netherlands - - 0 - - 1 Yu Sun
?/. 10 c.840A>T r.(?) p.(Lys280Asn) Parent #1 - VUS g.138880458T>A g.139798299T>A K280N - ATP11C_000034 found once, nonrecurrent change PubMed: Tarpey 2009 - - Germline - 1/208 cases - 0 - DNA SEQ - - MRX;IDX 19377476-Pat? PubMed: Tarpey 2009 - M - - - - 0 for details contact Lucy Raymond (flr24 @ cam.ac.uk) - 1 Lucy Raymond
-/. - c.923T>C r.(?) p.(Val308Ala) Unknown - benign g.138879429A>G g.139797270A>G ATP11C(NM_173694.4):c.923T>C (p.V308A) - ATP11C_000024 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
?/. - c.1137G>T r.(?) p.(Trp379Cys) Unknown - VUS g.138878510C>A g.139796351C>A ATP11C(NM_173694.4):c.1137G>T (p.W379C) - ATP11C_000037 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1188A>C r.(?) p.(Thr396=) Unknown - likely benign g.138878459T>G g.139796300T>G ATP11C(NM_173694.4):c.1188A>C (p.T396=) - ATP11C_000023 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
?/. 13 c.1303A>G r.(?) p.(Lys435Glu) Parent #1 - VUS g.138871560T>C g.139789401T>C K435E - ATP11C_000033 found once, nonrecurrent change PubMed: Tarpey 2009 - - Germline - 1/208 cases - 0 - DNA SEQ - - MRX;IDX 19377476-Pat? PubMed: Tarpey 2009 - M - - - - 0 for details contact Lucy Raymond (flr24 @ cam.ac.uk) - 1 Lucy Raymond
?/. 16 c.1653T>C r.(?) p.(=) Parent #1 - VUS g.138867407A>G g.139785248A>G S551S - ATP11C_000032 found once, nonrecurrent change PubMed: Tarpey 2009 - - Germline - 1/208 cases - 0 - DNA SEQ - - MRX;IDX 19377476-Pat? PubMed: Tarpey 2009 - M - - - - 0 for details contact Lucy Raymond (flr24 @ cam.ac.uk) - 1 Lucy Raymond
-?/. - c.1673A>G r.(?) p.(Glu558Gly) Unknown - likely benign g.138867387T>C g.139785228T>C ATP11C(NM_001010986.2):c.1673A>G (p.(Glu558Gly)) - ATP11C_000036 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. 17 c.1750A>G r.(?) p.(Thr584Ala) Parent #1 - VUS g.138865352T>C g.139783193T>C T584A - ATP11C_000031 found once, nonrecurrent change PubMed: Tarpey 2009 - - Germline - 1/208 cases - 0 - DNA SEQ - - MRX;IDX 19377476-Pat? PubMed: Tarpey 2009 - M - - - - 0 for details contact Lucy Raymond (flr24 @ cam.ac.uk) - 1 Lucy Raymond
-?/. - c.1750A>G r.(?) p.(Thr584Ala) Unknown - likely benign g.138865352T>C g.139783193T>C ATP11C(NM_001010986.2):c.1750A>G (p.(Thr584Ala)) - ATP11C_000031 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1761T>C r.(?) p.(His587=) Unknown - likely benign g.138865341A>G - ATP11C(NM_001353812.1):c.1752T>C (p.H584=) - ATP11C_000042 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1826A>T r.(?) p.(Asp609Val) Unknown - likely benign g.138864841T>A - ATP11C(NM_173694.4):c.1826A>T (p.D609V) - ATP11C_000041 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1961+271T>C r.(=) p.(=) Maternal (inferred) - VUS g.138864435A>G g.139782276A>G - - ATP11C_000005 - - - - Germline - - - - - DNA SEQ-NG-I - - CHTE - PubMed: Sun 2011, Journal: Sun 2011 - M no Netherlands - - 0 - - 1 Yu Sun
?/. - c.1961+271T>C r.(=) p.(=) Maternal (inferred) - VUS g.138864435A>G g.139782276A>G - - ATP11C_000005 - - - - Germline - - - - - DNA SEQ-NG-I - - CHTE - PubMed: Sun 2011, Journal: Sun 2011 - M no Netherlands - - 0 - - 1 Yu Sun
?/. 19 c.2009G>A r.(?) p.(Gly670Asp) Parent #1 - VUS g.138857065C>T g.139774906C>T G670D - ATP11C_000030 found once, nonrecurrent change PubMed: Tarpey 2009 - - Germline - 1/208 cases - 0 - DNA SEQ - - MRX;IDX 19377476-Pat? PubMed: Tarpey 2009 - M - - - - 0 for details contact Lucy Raymond (flr24 @ cam.ac.uk) - 1 Lucy Raymond
?/. 19 c.2177G>A r.(?) p.(Arg726His) Parent #1 - VUS g.138856897C>T g.139774738C>T R726H - ATP11C_000029 found once, nonrecurrent change PubMed: Tarpey 2009 - - Germline - 1/208 cases - 0 - DNA SEQ - - MRX;IDX 19377476-Pat? PubMed: Tarpey 2009 - M - - - - 0 for details contact Lucy Raymond (flr24 @ cam.ac.uk) - 1 Lucy Raymond
?/. - c.2606A>G r.(?) p.(Tyr869Cys) Unknown - VUS g.138844163T>C g.139762004T>C ATP11C(NM_173694.4):c.2606A>G (p.Y869C) - ATP11C_000035 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.3008T>C r.(?) p.(Phe1003Ser) Unknown - VUS g.138825749A>G g.139743590A>G ATP11C(NM_001010986.2):c.3008T>C (p.(Phe1003Ser)) - ATP11C_000021 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
?/. - c.3039+43A>G r.(=) p.(=) Maternal (inferred) - VUS g.138825675T>C g.139743516T>C - - ATP11C_000011 - - - - Germline - - - - - DNA SEQ-NG-I - - CHTE - PubMed: Sun 2011, Journal: Sun 2011 - M no Netherlands - - 0 - - 1 Yu Sun
?/. - c.3298-832dup r.(=) p.(=) Unknown - VUS g.138814760dup g.139732601dup - - ATP11C_000010 - - - - Germline - - - - - DNA SEQ-NG-I - - CHTE - PubMed: Sun 2011, Journal: Sun 2011 - M no Netherlands - - 0 - - 1 Yu Sun
?/. - c.3298-830del r.(=) p.(=) Unknown - VUS g.138814745del g.139732586del - - ATP11C_000020 - - - - Germline - - - - - DNA SEQ-NG-I - - CHTE - PubMed: Sun 2011, Journal: Sun 2011 - M no Netherlands - - 0 - - 1 Yu Sun
?/. - c.3298-830del r.(=) p.(=) Unknown - VUS g.138814745del g.139732586del - - ATP11C_000020 - - - - Germline - - - - - DNA SEQ-NG-I - - CHTE - PubMed: Sun 2011, Journal: Sun 2011 - M no Netherlands - - 0 - - 1 Yu Sun
-?/. - c.*8C>T r.(=) p.(=) Unknown - likely benign g.138811117G>A g.139728958G>A ATP11C(NM_001353810.1):c.3293C>T (p.P1098L) - ATP11C_000040 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.*122C>T - p.(=) Maternal (inferred) - VUS g.138811003G>A g.139728844G>A - - ATP11C_000012 Variant Error [EMISMATCH/EREF]: This transcript variant does not match the reference sequence. Please fix this entry and then remove this message. - - - Germline - - - - - DNA SEQ-NG-I - - CHTE - PubMed: Sun 2011, Journal: Sun 2011 - M no Netherlands - - 0 - - 1 Yu Sun
?/. - c.*122C>T - p.(=) Maternal (inferred) - VUS g.138811003G>A g.139728844G>A - - ATP11C_000012 Variant Error [EMISMATCH/EREF]: This transcript variant does not match the reference sequence. Please fix this entry and then remove this message. - - - Germline - - - - - DNA SEQ-NG-I - - CHTE - PubMed: Sun 2011, Journal: Sun 2011 - M no Netherlands - - 0 - - 1 Yu Sun
?/. - c.*2123A>G r.(=) p.(=) Maternal (inferred) - VUS g.138809002T>C g.139726843T>C - - ATP11C_000015 - - - - Germline - - - - - DNA SEQ-NG-I - - CHTE - PubMed: Sun 2011, Journal: Sun 2011 - M no Netherlands - - 0 - - 1 Yu Sun
?/. - c.*2123A>G r.(=) p.(=) Maternal (inferred) - VUS g.138809002T>C g.139726843T>C - - ATP11C_000015 - - - - Germline - - - - - DNA SEQ-NG-I - - CHTE - PubMed: Sun 2011, Journal: Sun 2011 - M no Netherlands - - 0 - - 1 Yu Sun
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