Full data view for gene GPR101

Information The variants shown are described using the NM_054021.1 transcript reference sequence.

19 entries on 1 page. Showing entries 1 - 19.
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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     

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Age at death     

VIP     

Data_av     

Treatment     

Panel size     

Owner     
-?/. - c.17C>G r.(?) p.(Thr6Ser) Unknown - likely benign g.136113817G>C g.137031658G>C GPR101(NM_054021.1):c.17C>G (p.T6S) - GPR101_000014 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.91G>A r.(?) p.(Gly31Ser) Unknown - likely benign g.136113743C>T g.137031584C>T GPR101(NM_054021.1):c.91G>A (p.(Gly31Ser)) - GPR101_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
?/. - c.200A>G r.(?) p.(Asn67Ser) Unknown - VUS g.136113634T>C g.137031475T>C GPR101(NM_054021.1):c.200A>G (p.N67S) - GPR101_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.267G>A r.(?) p.(Val89=) Unknown - likely benign g.136113567C>T - GPR101(NM_054021.1):c.267G>A (p.V89=) - GPR101_000019 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.370G>T r.(?) p.(Val124Leu) Parent #1 - VUS g.136113464C>A g.137031305C>A - - GPR101_000001 recurrent, found 96 times PubMed: Tarpey 2009 - - Germline - 96/208 cases - 0 - DNA SEQ - - MRX;IDX 19377476-Pat? PubMed: Tarpey 2009 - M - - - - 0 for details contact Lucy Raymond (flr24 @ cam.ac.uk) - 96 Lucy Raymond
?/. - n.370G>T r.(?) p.(Val124Leu) Maternal (inferred) - VUS g.136113464C>A g.137031305C>A - - GPR101_000001 Variant Error [EMISMATCH/0]: This transcript variant has an error. 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
?/. - n.370G>T r.(?) p.(Val124Leu) Maternal (inferred) - VUS g.136113464C>A g.137031305C>A - - GPR101_000001 Variant Error [EMISMATCH/0]: This transcript variant has an error. 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.476C>T r.(?) p.(Ala159Val) Parent #1 - VUS g.136113358G>A g.137031199G>A - - GPR101_000009 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.691A>G r.(?) p.(Arg231Gly) Unknown - likely benign g.136113143T>C - GPR101(NM_054021.1):c.691A>G (p.R231G) - GPR101_000018 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.735G>A r.(=) p.(=) Parent #1 - likely benign g.136113099C>T g.137030940C>T E245E - GPR101_000008 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.812A>C r.(?) p.(Lys271Thr) Unknown - likely benign g.136113022T>G - GPR101(NM_054021.1):c.812A>C (p.K271T) - GPR101_000016 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.917T>A r.(?) p.(Val306Asp) Unknown - VUS g.136112917A>T g.137030758A>T GPR101(NM_054021.1):c.917T>A (p.V306D) - GPR101_000012 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.924G>C r.(?) p.(Glu308Asp) Unknown - likely benign g.136112910C>G g.137030751C>G GPR101(NM_054021.1):c.924G>C (p.E308D, p.(Glu308Asp)) - GPR101_000011 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.924G>C r.(?) p.(Glu308Asp) Unknown - likely benign g.136112910C>G - GPR101(NM_054021.1):c.924G>C (p.E308D, p.(Glu308Asp)) - GPR101_000011 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.993C>T r.(?) p.(Ser331=) Unknown - likely benign g.136112841G>A - GPR101(NM_054021.1):c.993C>T (p.S331=) - GPR101_000017 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1127T>C r.(?) p.(Leu376Pro) Parent #1 - VUS g.136112707A>G g.137030548A>G - - GPR101_000007 recurrent, found 21 times PubMed: Tarpey 2009 - - Germline - 21/208 cases - 0 - DNA SEQ - - MRX;IDX 19377476-Pat? PubMed: Tarpey 2009 - M - - - - 0 for details contact Lucy Raymond (flr24 @ cam.ac.uk) - 21 Lucy Raymond
-?/. - c.1224T>C r.(=) p.(=) Parent #1 - likely benign g.136112610A>G g.137030451A>G Y408Y - GPR101_000006 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.1294C>T r.(?) p.(Pro432Ser) Unknown - likely benign g.136112540G>A - GPR101(NM_054021.1):c.1294C>T (p.(Pro432Ser)) - GPR101_000015 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1411_1413del r.(?) p.(Lys471del) Unknown - VUS g.136112425_136112427del g.137030266_137030268del GPR101(NM_054021.1):c.1411_1413del (p.(Lys471del)) - GPR101_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
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