Full data view for gene SLC6A14

Information The variants shown are described using the NM_007231.3 transcript reference sequence.

46 entries on 1 page. Showing entries 1 - 46.
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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.48+167A>T r.(=) p.(=) Maternal (inferred) - VUS g.115568092A>T g.116436924A>T - - SLC6A14_000033 - - - - Germline - - - - - DNA SEQ-NG-I - - CHTE - PubMed: Sun 2011, Journal: Sun 2011 - M no Netherlands - - 0 - - 1 Yu Sun
?/. - c.48+167A>T r.(=) p.(=) Maternal (inferred) - VUS g.115568092A>T g.116436924A>T - - SLC6A14_000033 - - - - Germline - - - - - DNA SEQ-NG-I - - CHTE - PubMed: Sun 2011, Journal: Sun 2011 - M no Netherlands - - 0 - - 1 Yu Sun
?/. - c.53T>C r.(?) p.(Val18Ala) Unknown - VUS g.115568962T>C g.116437794T>C SLC6A14(NM_007231.4):c.53T>C (p.V18A) - SLC6A14_000034 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.78T>C r.(?) p.(His26=) Unknown - likely benign g.115568987T>C g.116437819T>C SLC6A14(NM_007231.4):c.78T>C (p.H26=) - SLC6A14_000058 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. 2 c.84T>A r.(?) p.(=) Parent #1 - likely benign g.115568993T>A g.116437825T>A G28G - SLC6A14_000047 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
?/. 2 c.99T>G r.(?) p.(Asn33Lys) Parent #1 - VUS g.115569008T>G g.116437840T>G N33K - SLC6A14_000048 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
-?/. 2 c.120C>T r.(?) p.(=) Parent #1 - likely benign g.115569029C>T g.116437861C>T S40S - SLC6A14_000049 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.285A>C r.(?) p.(Ser95=) Unknown - likely benign g.115572204A>C g.116441036A>C SLC6A14(NM_007231.4):c.285A>C (p.S95=) - SLC6A14_000059 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.346+165T>C r.(=) p.(=) Maternal (inferred) - VUS g.115572430T>C g.116441262T>C - - SLC6A14_000024 - - - - Germline - - - - - DNA SEQ-NG-I - - CHTE - PubMed: Sun 2011, Journal: Sun 2011 - M no Netherlands - - 0 - - 1 Yu Sun
?/. - c.346+165T>C r.(=) p.(=) Maternal (inferred) - VUS g.115572430T>C g.116441262T>C - - SLC6A14_000024 - - - - Germline - - - - - DNA SEQ-NG-I - - CHTE - PubMed: Sun 2011, Journal: Sun 2011 - M no Netherlands - - 0 - - 1 Yu Sun
?/. - c.347-178T>C r.(=) p.(=) Maternal (inferred) - VUS g.115573677T>C g.116442509= - - SLC6A14_000027 - - - - Germline - - - - - DNA SEQ-NG-I - - CHTE - PubMed: Sun 2011, Journal: Sun 2011 - M no Netherlands - - 0 - - 1 Yu Sun
?/. - c.347-178T>C r.(=) p.(=) Maternal (inferred) - VUS g.115573677T>C g.116442509= - - SLC6A14_000027 - - - - Germline - - - - - DNA SEQ-NG-I - - CHTE - PubMed: Sun 2011, Journal: Sun 2011 - M no Netherlands - - 0 - - 1 Yu Sun
?/. - c.374C>T r.(?) p.(Ser125Phe) Unknown - VUS g.115573882C>T g.116442714C>T SLC6A14(NM_007231.4):c.374C>T (p.S125F) - SLC6A14_000036 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.409G>T r.(?) p.(Ala137Ser) Unknown - likely benign g.115573917G>T g.116442749G>T SLC6A14(NM_007231.4):c.409G>T (p.(Ala137Ser)) - SLC6A14_000055 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.506T>C r.(?) p.(Ile169Thr) Unknown - VUS g.115574014T>C g.116442846T>C SLC6A14(NM_007231.4):c.506T>C (p.I169T) - SLC6A14_000037 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
?/. - c.657-130T>C r.(=) p.(=) Maternal (inferred) - VUS g.115575956T>C g.116444788= - - SLC6A14_000030 - - - - Germline - - - - - DNA SEQ-NG-I - - CHTE - PubMed: Sun 2011, Journal: Sun 2011 - M no Netherlands - - 0 - - 1 Yu Sun
?/. - c.657-130T>C r.(=) p.(=) Maternal (inferred) - VUS g.115575956T>C g.116444788= - - SLC6A14_000030 - - - - Germline - - - - - DNA SEQ-NG-I - - CHTE - PubMed: Sun 2011, Journal: Sun 2011 - M no Netherlands - - 0 - - 1 Yu Sun
?/. - c.657-97A>C r.(=) p.(=) Maternal (inferred) - VUS g.115575989A>C g.116444821= - - SLC6A14_000001 - - - - Germline - - - - - DNA SEQ-NG-I - - CHTE - PubMed: Sun 2011, Journal: Sun 2011 - M no Netherlands - - 0 - - 1 Yu Sun
?/. - c.657-97A>C r.(=) p.(=) Maternal (inferred) - VUS g.115575989A>C g.116444821= - - SLC6A14_000001 - - - - Germline - - - - - DNA SEQ-NG-I - - CHTE - PubMed: Sun 2011, Journal: Sun 2011 - M no Netherlands - - 0 - - 1 Yu Sun
-?/. - c.687G>T r.(?) p.(Met229Ile) Unknown - likely benign g.115576116G>T - SLC6A14(NM_007231.4):c.687G>T (p.M229I) - SLC6A14_000061 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.930+168A>C r.(=) p.(=) Maternal (inferred) - VUS g.115578215A>C g.116447049A>C - - SLC6A14_000004 - - - - Germline - - - - - DNA SEQ-NG-I - - CHTE - PubMed: Sun 2011, Journal: Sun 2011 - M no Netherlands - - 0 - - 1 Yu Sun
?/. - c.967C>T r.(?) p.(Leu323Phe) Unknown - VUS g.115582643C>T - SLC6A14(NM_007231.4):c.967C>T (p.L323F) - SLC6A14_000062 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. 8 c.1010A>G r.(?) p.(Asn337Ser) Parent #1 - VUS g.115582686A>G g.116451521A>G N337S - SLC6A14_000050 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.1150G>C r.(?) p.(Val384Leu) Unknown - VUS g.115582826G>C g.116451661G>C SLC6A14(NM_007231.4):c.1150G>C (p.V384L) - SLC6A14_000057 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1160-5C>T r.spl? p.? Unknown - likely benign g.115584177C>T g.116453012C>T SLC6A14(NM_007231.4):c.1160-5C>T (p.?) - SLC6A14_000042 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
?/. - c.1285+95C>G r.(=) p.(=) Maternal (inferred) - VUS g.115584402C>G g.116453237C>G - - SLC6A14_000005 - - - - Germline - - - - - DNA SEQ-NG-I - - CHTE - PubMed: Sun 2011, Journal: Sun 2011 - M no Netherlands - - 0 - - 1 Yu Sun
?/. - c.1285+95C>G r.(=) p.(=) Maternal (inferred) - VUS g.115584402C>G g.116453237C>G - - SLC6A14_000005 - - - - Germline - - - - - DNA SEQ-NG-I - - CHTE - PubMed: Sun 2011, Journal: Sun 2011 - M no Netherlands - - 0 - - 1 Yu Sun
-?/. 10 c.1332G>A r.(?) p.(=) Parent #1 - likely benign g.115585536G>A g.116454370G>A K444K - SLC6A14_000051 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.1389C>T r.(?) p.(Leu463=) Unknown - likely benign g.115585593C>T g.116454427C>T SLC6A14(NM_007231.4):c.1389C>T (p.L463=) - SLC6A14_000060 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1404+70C>G r.(=) p.(=) Maternal (inferred) - VUS g.115585678C>G g.116454512C>G - - SLC6A14_000008 - - - - Germline - - - - - DNA SEQ-NG-I - - CHTE - PubMed: Sun 2011, Journal: Sun 2011 - M no Netherlands - - 0 - - 1 Yu Sun
?/. - c.1404+70C>G r.(=) p.(=) Maternal (inferred) - VUS g.115585678C>G g.116454512C>G - - SLC6A14_000008 - - - - Germline - - - - - DNA SEQ-NG-I - - CHTE - PubMed: Sun 2011, Journal: Sun 2011 - M no Netherlands - - 0 - - 1 Yu Sun
?/. 12 c.1529C>T r.(?) p.(Thr510Ile) Parent #1 - VUS g.115586547C>T g.116455381C>T T510I - SLC6A14_000052 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
-?/. 12 c.1593A>C r.(?) p.(=) Parent #1 - likely benign g.115586611A>C g.116455445A>C V531V - SLC6A14_000053 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.1614+68A>G r.(=) p.(=) Maternal (inferred) - VUS g.115586700A>G g.116455534A>G - - SLC6A14_000011 - - - - Germline - - - - - DNA SEQ-NG-I - - CHTE - PubMed: Sun 2011, Journal: Sun 2011 - M no Netherlands - - 0 - - 1 Yu Sun
?/. - c.1614+68A>G r.(=) p.(=) Maternal (inferred) - VUS g.115586700A>G g.116455534A>G - - SLC6A14_000011 - - - - Germline - - - - - DNA SEQ-NG-I - - CHTE - PubMed: Sun 2011, Journal: Sun 2011 - M no Netherlands - - 0 - - 1 Yu Sun
?/. - c.1782+170C>G r.(=) p.(=) Maternal (inferred) - VUS g.115589112C>G g.116457946= - - SLC6A14_000014 - - - - Germline - - - - - DNA SEQ-NG-I - - CHTE - PubMed: Sun 2011, Journal: Sun 2011 - M no Netherlands - - 0 - - 1 Yu Sun
?/. - c.1782+170C>G r.(=) p.(=) Maternal (inferred) - VUS g.115589112C>G g.116457946= - - SLC6A14_000014 - - - - Germline - - - - - DNA SEQ-NG-I - - CHTE - PubMed: Sun 2011, Journal: Sun 2011 - M no Netherlands - - 0 - - 1 Yu Sun
?/. - c.1783-196A>C r.(=) p.(=) Maternal (inferred) - VUS g.115589779A>C g.116458613A>C - - SLC6A14_000016 - - - - Germline - - - - - DNA SEQ-NG-I - - CHTE - PubMed: Sun 2011, Journal: Sun 2011 - M no Netherlands - - 0 - - 1 Yu Sun
?/. - c.1783-196A>C r.(=) p.(=) Maternal (inferred) - VUS g.115589779A>C g.116458613A>C - - SLC6A14_000016 - - - - Germline - - - - - DNA SEQ-NG-I - - CHTE - PubMed: Sun 2011, Journal: Sun 2011 - M no Netherlands - - 0 - - 1 Yu Sun
-?/. - c.1846G>A r.(?) p.(Glu616Lys) Unknown - likely benign g.115590038G>A g.116458872G>A SLC6A14(NM_007231.4):c.1846G>A (p.E616K) - SLC6A14_000045 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
?/. - c.*178C>G r.(=) p.(=) Maternal (inferred) - VUS g.115590299C>G g.116459133C>G - - SLC6A14_000018 - - - - Germline - - - - - DNA SEQ-NG-I - - CHTE - PubMed: Sun 2011, Journal: Sun 2011 - M no Netherlands - - 0 - - 1 Yu Sun
?/. - c.*178C>G r.(=) p.(=) Maternal (inferred) - VUS g.115590299C>G g.116459133C>G - - SLC6A14_000018 - - - - Germline - - - - - DNA SEQ-NG-I - - CHTE - PubMed: Sun 2011, Journal: Sun 2011 - M no Netherlands - - 0 - - 1 Yu Sun
-?/. - c.*1603_*1605delinsCC r.(=) p.(=) Maternal (confirmed) - likely benign g.115591724_115591726delinsCC - 115591723_115591726delTTCTinsTCC - SLC6A14_000054 - PubMed: Kumar 2016, Journal: Kumar 2016 - rs5905179 Germline - - - 0 - DNA SEQ-NG ThuongHa - MRX;IDX - PubMed: Kumar 2016, Journal: Kumar 2016 6-generation family with mutliple affected M no Australia - - 0 - - 10 Thuong Ha
?/. - c.*2115A>G r.(=) p.(=) Maternal (inferred) - VUS g.115592236A>G g.116461069A>G - - SLC6A14_000021 - - - - Germline - - - - - DNA SEQ-NG-I - - CHTE - PubMed: Sun 2011, Journal: Sun 2011 - M no Netherlands - - 0 - - 1 Yu Sun
?/. - c.*2115A>G r.(=) p.(=) Maternal (inferred) - VUS g.115592236A>G g.116461069A>G - - SLC6A14_000021 - - - - Germline - - - - - DNA SEQ-NG-I - - CHTE - PubMed: Sun 2011, Journal: Sun 2011 - M no Netherlands - - 0 - - 1 Yu Sun
-?/. - c.*2829G>C r.(=) p.(=) Unknown - likely benign g.115592950G>C g.116461783G>C CT83(NM_001017978.4):c.300C>G (p.S100R) - CXorf61_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
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