Full data view for gene ACOT9

Information The variants shown are described using the NM_001033583.2 transcript reference sequence.

35 entries on 1 page. Showing entries 1 - 35.
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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.20+120T>G - p.(=) Maternal (inferred) - - g.23761122A>C g.23743005A>C - - ACOT9_000022 - - - - Germline - - - - - DNA SEQ-NG-I - - CHTE - PubMed: Sun 2011, Journal: Sun 2011 - M no Netherlands - - 0 - - 1 Yu Sun
?/. - c.21-374C>T - p.(=) Maternal (inferred) - - g.23754507G>A g.23736390G>A - - ACOT9_000020 - - - - Germline - - - - - DNA SEQ-NG-I - - CHTE - PubMed: Sun 2011, Journal: Sun 2011 - M no Netherlands - - 0 - - 1 Yu Sun
?/. - c.21-374C>T - p.(=) Maternal (inferred) - - g.23754507G>A g.23736390G>A - - ACOT9_000020 - - - - Germline - - - - - DNA SEQ-NG-I - - CHTE - PubMed: Sun 2011, Journal: Sun 2011 - M no Netherlands - - 0 - - 1 Yu Sun
?/. - c.38A>G r.(?) p.(Lys13Arg) Unknown - VUS g.23754116T>C - ACOT9(NM_001033583.2):c.38A>G (p.(Lys13Arg)) - ACOT9_000031 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.43C>T r.(?) p.(Gln15*) Unknown - likely benign g.23754111G>A - ACOT9(NM_001037171.1):c.43C>T (p.Q15*) - ACOT9_000030 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
?/. - c.302G>A r.(?) p.(Arg101Gln) Unknown - VUS g.23748966C>T - ACOT9(NM_001330259.1):c.122G>A (p.R41Q) - ACOT9_000035 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.373+255A>G - p.(=) Maternal (inferred) - - g.23748389T>C g.23730272T>C - - ACOT9_000018 - - - - Germline - - - - - DNA SEQ-NG-I - - CHTE - PubMed: Sun 2011, Journal: Sun 2011 - M no Netherlands - - 0 - - 1 Yu Sun
?/. - c.457+92dup - p.(=) Unknown - - g.23740695dup g.23722578dup - - ACOT9_000017 - - - - Germline - - - - - DNA SEQ-NG-I - - CHTE - PubMed: Sun 2011, Journal: Sun 2011 - M no Netherlands - - 0 - - 1 Yu Sun
?/. - c.457+143T>C - p.(=) Maternal (inferred) - - g.23740644A>G g.23722527A>G - - ACOT9_000014 - - - - Germline - - - - - DNA SEQ-NG-I - - CHTE - PubMed: Sun 2011, Journal: Sun 2011 - M no Netherlands - - 0 - - 1 Yu Sun
?/. - c.457+143T>C - p.(=) Maternal (inferred) - - g.23740644A>G g.23722527A>G - - ACOT9_000014 - - - - Germline - - - - - DNA SEQ-NG-I - - CHTE - PubMed: Sun 2011, Journal: Sun 2011 - M no Netherlands - - 0 - - 1 Yu Sun
?/. - c.457+250G>A - p.(=) Maternal (inferred) - - g.23740537C>T g.23722420C>T - - ACOT9_000012 - - - - Germline - - - - - DNA SEQ-NG-I - - CHTE - PubMed: Sun 2011, Journal: Sun 2011 - M no Netherlands - - 0 - - 1 Yu Sun
?/. - c.457+250G>A - p.(=) Maternal (inferred) - - g.23740537C>T g.23722420C>T - - ACOT9_000012 - - - - Germline - - - - - DNA SEQ-NG-I - - CHTE - PubMed: Sun 2011, Journal: Sun 2011 - M no Netherlands - - 0 - - 1 Yu Sun
?/. - c.461T>C r.(?) p.(Met154Thr) Unknown - VUS g.23740098A>G - ACOT9(NM_001037171.1):c.488T>C (p.M163T) - ACOT9_000028 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
?/. - c.482C>G r.(?) p.(Pro161Arg) Unknown - VUS g.23740077G>C - ACOT9(NM_001033583.2):c.482C>G (p.(Pro161Arg)) - ACOT9_000027 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
?/. - c.561+141T>C - p.(=) Maternal (inferred) - - g.23739857A>G g.23721740A>G - - ACOT9_000009 - - - - Germline - - - - - DNA SEQ-NG-I - - CHTE - PubMed: Sun 2011, Journal: Sun 2011 - M no Netherlands - - 0 - - 1 Yu Sun
?/. - c.561+141T>C - p.(=) Maternal (inferred) - - g.23739857A>G g.23721740A>G - - ACOT9_000009 - - - - Germline - - - - - DNA SEQ-NG-I - - CHTE - PubMed: Sun 2011, Journal: Sun 2011 - M no Netherlands - - 0 - - 1 Yu Sun
?/. - c.561+237T>C - p.(=) Maternal (inferred) - - g.23739761A>G g.23721644A>G - - ACOT9_000008 - - - - Germline - - - - - DNA SEQ-NG-I - - CHTE - PubMed: Sun 2011, Journal: Sun 2011 - M no Netherlands - - 0 - - 1 Yu Sun
-?/. - c.566A>G r.(?) p.(His189Arg) Unknown - likely benign g.23731321T>C - ACOT9(NM_001033583.2):c.566A>G (p.(His189Arg)), ACOT9(NM_001037171.1):c.593A>G (p.H198R), ACOT9(NM_001330259.1):c.386A>G (p.H129R) - ACOT9_000026 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
?/. - c.566A>G r.(?) p.(His189Arg) Parent #1 - - g.23731321T>C - - - ACOT9_000026 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.566A>G r.(?) p.(His189Arg) Unknown - likely benign g.23731321T>C - ACOT9(NM_001033583.2):c.566A>G (p.(His189Arg)), ACOT9(NM_001037171.1):c.593A>G (p.H198R), ACOT9(NM_001330259.1):c.386A>G (p.H129R) - ACOT9_000026 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.566A>G r.(?) p.(His189Arg) Unknown - likely benign g.23731321T>C - ACOT9(NM_001033583.2):c.566A>G (p.(His189Arg)), ACOT9(NM_001037171.1):c.593A>G (p.H198R), ACOT9(NM_001330259.1):c.386A>G (p.H129R) - ACOT9_000026 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.737del r.(?) p.(Thr246Serfs*4) Unknown - VUS g.23724823del - ACOT9(NM_001330259.1):c.557delC (p.T186Sfs*4) - ACOT9_000025 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
?/. - c.815+47_815+48insTT - p.(=) Unknown - - g.23724697_23724698insAA g.23706580_23706581insAA - - ACOT9_000006 - - - - Germline - - - - - DNA SEQ-NG-I - - CHTE - PubMed: Sun 2011, Journal: Sun 2011 - M no Netherlands - - 0 - - 1 Yu Sun
?/. - c.815+47_815+48insTTT - p.(=) Unknown - - g.23724697_23724698insAAA g.23706580_23706581insAAA - - ACOT9_000007 - - - - Germline - - - - - DNA SEQ-NG-I - - CHTE - PubMed: Sun 2011, Journal: Sun 2011 - M no Netherlands - - 0 - - 1 Yu Sun
?/. - c.815+48dup - p.(=) Unknown - - g.23724697dup g.23706580dup - - ACOT9_000004 - - - - Germline - - - - - DNA SEQ-NG-I - - CHTE - PubMed: Sun 2011, Journal: Sun 2011 - M no Netherlands - - 0 - - 1 Yu Sun
?/. - c.815+48dup - p.(=) Unknown - - g.23724697dup g.23706580dup - - ACOT9_000004 - - - - Germline - - - - - DNA SEQ-NG-I - - CHTE - PubMed: Sun 2011, Journal: Sun 2011 - M no Netherlands - - 0 - - 1 Yu Sun
?/. - c.835C>T r.(?) p.(Arg279*) Unknown - VUS g.23723956G>A - ACOT9(NM_001033583.2):c.835C>T (p.(Arg279Ter)) - ACOT9_000024 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
?/. - c.898C>G r.(?) p.(His300Asp) Unknown - VUS g.23723893G>C - ACOT9(NM_001037171.1):c.925C>G (p.H309D) - ACOT9_000023 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
?/. - c.907G>C r.(?) p.(Glu303Gln) Parent #1 - - g.23723711C>G - - - ACOT9_000005 recurrent, found 5 times PubMed: Tarpey 2009 - - Germline - 5/208 cases - 0 - DNA SEQ - - MRX;IDX 19377476-Pat? PubMed: Tarpey 2009 - M - - - - 0 for details contact Lucy Raymond (flr24 @ cam.ac.uk) - 5 Lucy Raymond
?/. - c.923A>G r.(?) p.(Asn308Ser) Unknown - VUS g.23723695T>C - ACOT9(NM_001330259.1):c.743A>G (p.N248S) - ACOT9_000033 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.993-64A>G - p.(=) Maternal (inferred) - - g.23723261T>C g.23705144T>C - - ACOT9_000001 - - - - Germline - - - - - DNA SEQ-NG-I - - CHTE - PubMed: Sun 2011, Journal: Sun 2011 - M no Netherlands - - 0 - - 1 Yu Sun
?/. - c.993-64A>G - p.(=) Maternal (inferred) - - g.23723261T>C g.23705144T>C - - ACOT9_000001 - - - - Germline - - - - - DNA SEQ-NG-I - - CHTE - PubMed: Sun 2011, Journal: Sun 2011 - M no Netherlands - - 0 - - 1 Yu Sun
?/. - c.1037A>G r.(?) p.(Gln346Arg) Parent #1 - - g.23723153T>C - - - ACOT9_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.1196A>G r.(?) p.(Lys399Arg) Parent #1 - - g.23722846T>C - - - ACOT9_000002 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.1207T>C r.(=) p.(=) Parent #1 - - g.23722835A>G - L403L - ACOT9_000003 recurrent, found 36 times PubMed: Tarpey 2009 - - Germline - 36/208 cases - 0 - DNA SEQ - - MRX;IDX 19377476-Pat? PubMed: Tarpey 2009 - M - - - - 0 for details contact Lucy Raymond (flr24 @ cam.ac.uk) - 36 Lucy Raymond
Legend