Full data view for gene AMOT

Information The variants shown are described using the NM_133265.2 transcript reference sequence.

26 entries on 1 page. Showing entries 1 - 26.
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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.-356+7257_-356+7258del r.(=) p.(=) Unknown - VUS g.112068284_112068285del g.112825056_112825057del - - AMOT_000001 - - - - Germline - - - - - DNA SEQ-NG-I - - CHTE - PubMed: Sun 2011, Journal: Sun 2011 - M no Netherlands - - 0 - - 1 Yu Sun
-?/. - c.-355-6814C>G r.(=) p.(=) Unknown - likely benign g.112065919G>C g.112822691G>C AMOT(NM_001113490.1):c.436C>G (p.R146G) - AMOT_000029 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.-347A>C r.(?) p.(=) Unknown - VUS g.112059097T>G g.112815869T>G AMOT(NM_001113490.1):c.881A>C (p.(Gln294Pro)) - AMOT_000013 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.-125G>A r.(?) p.(=) Unknown - likely benign g.112058875C>T g.112815647C>T AMOT(NM_001113490.1):c.1103G>A (p.(Arg368His)) - AMOT_000027 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.-35_-33dup r.(?) p.(=) Unknown - VUS g.112058796_112058798dup g.112815568_112815570dup AMOT(NM_001113490.1):c.1195_1196insAGC (p.(Gln398dup)) - AMOT_000012 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
?/. - c.15G>A r.(=) p.(=) Parent #1 - VUS g.112058736C>T g.112815508C>T Q5Q - AMOT_000020 recurrent, found 4 times PubMed: Tarpey 2009 - - Germline - 4/208 cases - 0 - DNA SEQ - - MRX;IDX 19377476-Pat? PubMed: Tarpey 2009 - M - - - - 0 for details contact Lucy Raymond (flr24 @ cam.ac.uk) - 4 Lucy Raymond
+?/. 7 c.699G>C r.spl? p.(Gln233His) Unknown - likely pathogenic g.112035060C>G g.112791832C>G NM_001113490.1:c.1926G>C - AMOT_000003 - PubMed: Bosch 2016, Journal: Bosch 2016 - - De novo - - - 0 - DNA SEQ-NG - - CVI, ID - PubMed: Bosch 2016, Journal: Bosch 2016 - F no Netherlands - - 0 - - 1 Danielle Bosch
?/. - c.726C>T r.(=) p.(=) Parent #1 - VUS g.112033984G>A g.112790756G>A N242N - AMOT_000019 recurrent, found 2 times PubMed: Tarpey 2009 - - Germline - 2/208 cases - 0 - DNA SEQ - - MRX;IDX 19377476-Pat? PubMed: Tarpey 2009 - M - - - - 0 for details contact Lucy Raymond (flr24 @ cam.ac.uk) - 2 Lucy Raymond
?/. - c.1121G>A r.(?) p.(Arg374Gln) Unknown - VUS g.112024239C>T g.112781011C>T AMOT(NM_001113490.1):c.2348G>A (p.R783Q) - AMOT_000010 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
?/. - c.1203C>A r.(=) p.(=) Parent #1 - VUS g.112024157G>T g.112780929G>T I401I - AMOT_000018 recurrent, found 18 times PubMed: Tarpey 2009 - - Germline - 18/208 cases - 0 - DNA SEQ - - MRX;IDX 19377476-Pat? PubMed: Tarpey 2009 - M - - - - 0 for details contact Lucy Raymond (flr24 @ cam.ac.uk) - 18 Lucy Raymond
?/. - c.1229G>A r.(?) p.(Ser410Asn) Unknown - VUS g.112024131C>T g.112780903C>T AMOT(NM_001113490.1):c.2456G>A (p.S819N) - AMOT_000009 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
?/. - c.1247-169C>T r.(=) p.(=) Maternal (inferred) - VUS g.112023077G>A g.112779849G>A - - AMOT_000002 - - - - Germline - - - - - DNA SEQ-NG-I - - CHTE - PubMed: Sun 2011, Journal: Sun 2011 - M no Netherlands - - 0 - - 1 Yu Sun
?/. - c.1261G>A r.(?) p.(Gly421Arg) Parent #1 - VUS g.112022894C>T g.112779666C>T - - AMOT_000017 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.1271G>A r.(?) p.(Arg424His) Unknown - VUS g.112022884C>T g.112779656C>T AMOT(NM_001113490.1):c.2498G>A (p.R833H) - AMOT_000025 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1382C>T r.(?) p.(Thr461Met) Unknown - likely benign g.112022773G>A g.112779545G>A AMOT(NM_001113490.1):c.2609C>T (p.T870M) - AMOT_000008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
?/. - c.1438G>A r.(?) p.(Ala480Thr) Unknown - VUS g.112022717C>T g.112779489C>T AMOT(NM_001113490.1):c.2665G>A (p.A889T) - AMOT_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.1452_1466dup r.(?) p.(Ala485_Ala489dup) Unknown - likely benign g.112022695_112022709dup g.112779467_112779481dup AMOT(NM_001113490.1):c.2693_2694insTGCCGCCATCACTGC (p.(Ala894_Ala898dup)) - AMOT_000031 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1511_1537del r.(?) p.(Val504_Pro512del) Unknown - VUS g.112022631_112022657del g.112779403_112779429del AMOT(NM_001113490.1):c.2738_2764del (p.(Val913_Pro921del)) - AMOT_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
?/. - c.1511_1537del r.(?) p.(Val504_Pro512del) Unknown - VUS g.112022631_112022657del g.112779403_112779429del 1511_1537delTTGCTGTTGCTGCTGCTGCTGCTCCAG;V504_A513>A - AMOT_000006 variant and/or predicted effect could not be not confirmed by curators PubMed: Tarpey 2009 - - Germline - 2/208 cases - 0 - DNA SEQ - - MRX;IDX 19377476-Pat? PubMed: Tarpey 2009 - M - - - - 0 for details contact Lucy Raymond (flr24 @ cam.ac.uk) - 2 Lucy Raymond
?/. - c.1568C>T r.(?) p.(Ala523Val) Unknown - VUS g.112022587G>A g.112779359G>A AMOT(NM_001113490.1):c.2795C>T (p.A932V) - AMOT_000030 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1576A>G r.(?) p.(Thr526Ala) Parent #1 - VUS g.112022579T>C g.112779351T>C - - AMOT_000016 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.1625C>T r.(?) p.(Ala542Val) Unknown - VUS g.112022530G>A g.112779302G>A AMOT(NM_001113490.1):c.2852C>T (p.A951V, p.(Ala951Val)) - AMOT_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.1625C>T r.(?) p.(Ala542Val) Unknown - likely benign g.112022530G>A g.112779302G>A AMOT(NM_001113490.1):c.2852C>T (p.A951V, p.(Ala951Val)) - AMOT_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1706_1723del r.(?) p.(Pro569_Ala574del) Unknown - likely benign g.112022442_112022459del g.112779214_112779231del AMOT(NM_001113490.1):c.2933_2950del (p.(Pro978_Ala983del)) - AMOT_000022 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1817C>T r.(?) p.(Ala606Val) Unknown - likely benign g.112022338G>A g.112779110G>A AMOT(NM_001113490.1):c.3044C>T (p.A1015V) - AMOT_000021 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1855_1857dup r.(?) p.(Pro619dup) Parent #1 - VUS g.112022299_112022301dup g.112779071_112779073dup 1857_1858insCCT;K619_A620insP - AMOT_000015 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
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