Unique variants in the GPR50 gene

Information The variants shown are described using the NM_004224.3 transcript reference sequence.

21 entries on 1 page. Showing entries 1 - 21.
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Effect     

Reported     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     

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     

Owner     
-?/. 2 - c.178C>T r.(?) p.(Arg60Trp) - likely benign g.150345371C>T g.151176899C>T GPR50(NM_004224.3):c.178C>T (p.R60W, p.(Arg60Trp)) - GPR50_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden, VKGL-NL_Rotterdam
?/. 2 - c.188-15C>T r.(=) p.(=) - VUS g.150348228C>T g.151179756C>T - - GPR50_000001 - - - - Germline - - - - - Yu Sun
?/. 1 - c.412C>T r.(?) p.(Arg138Trp) - VUS g.150348467C>T g.151179995C>T GPR50(NM_004224.3):c.412C>T (p.R138W) - GPR50_000020 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. 1 - c.503C>T r.(?) p.(Thr168Ile) - VUS g.150348558C>T g.151180086C>T GPR50(NM_004224.3):c.503C>T (p.T168I) - GPR50_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. 1 - c.508G>A r.(?) p.(Glu170Lys) - likely benign g.150348563G>A g.151180091G>A GPR50(NM_004224.3):c.508G>A (p.E170K) - GPR50_000008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. 1 2 c.555C>T r.(=) p.(=) - VUS g.150348610C>T g.151180138C>T N185N - GPR50_000012 recurrent, found 2 times PubMed: Tarpey 2009 - - Germline - 2/208 cases - - - Lucy Raymond
-?/. 1 - c.1010G>A r.(?) p.(Arg337His) - likely benign g.150349065G>A g.151180593G>A GPR50(NM_004224.3):c.1010G>A (p.R337H) - GPR50_000021 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. 1 - c.1012G>A r.(?) p.(Ala338Thr) - likely benign g.150349067G>A g.151180595G>A GPR50(NM_004224.3):c.1012G>A (p.A338T) - GPR50_000022 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. 1 - c.1096C>T r.(?) p.(Arg366Trp) - likely benign g.150349151C>T - GPR50(NM_004224.3):c.1096C>T (p.R366W) - GPR50_000027 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. 1 2 c.1262T>C r.(?) p.(Val421Ala) - VUS g.150349317T>C g.151180845T>C V421A - GPR50_000013 found once, nonrecurrent change PubMed: Tarpey 2009 - - Germline - 1/208 cases - - - Lucy Raymond
?/. 1 2 c.1269C>T r.(=) p.(=) - VUS g.150349324C>T g.151180852C>T G423G - GPR50_000014 found once, nonrecurrent change PubMed: Tarpey 2009 - - Germline - 1/208 cases - - - Lucy Raymond
?/. 1 2 c.1478G>A r.(?) p.(Ser493Asn) - VUS g.150349533G>A g.151181061G>A S493N - GPR50_000015 recurrent, found 11 times PubMed: Tarpey 2009 - - Germline - 11/208 cases - - - Lucy Raymond
?/. 1 2 c.1505C>T r.(?) p.(Thr502Ile) - VUS g.150349560C>T g.151181088C>T T502I - GPR50_000016 recurrent, found 2 times PubMed: Tarpey 2009 - - Germline - 2/208 cases - - - Lucy Raymond
?/. 1 2 c.1505_1516del r.(?) p.(Thr502_His505del) - VUS g.150349560_150349571del g.151181088_151181099del T502_H505del - GPR50_000017 recurrent, found 79 times PubMed: Tarpey 2009 - - Germline - 79/208 cases - - - Lucy Raymond
-?/. 1 - c.1578C>T r.(?) p.(Thr526=) - likely benign g.150349633C>T - GPR50(NM_004224.3):c.1578C>T (p.T526=) - GPR50_000026 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. 1 2 c.1594A>G r.(?) p.(Thr532Ala) - VUS g.150349649A>G g.151181177A>G T532A - GPR50_000018 recurrent, found 78 times PubMed: Tarpey 2009 - - Germline - 78/208 cases - - - Lucy Raymond
-?/. 1 - c.1656C>A r.(?) p.(His552Gln) - likely benign g.150349711C>A g.151181239C>A GPR50(NM_004224.3):c.1656C>A (p.H552Q) - GPR50_000011 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. 1 2 c.1689G>A r.(=) p.(=) - VUS g.150349744G>A g.151181272G>A S563S - GPR50_000019 recurrent, found 2 times PubMed: Tarpey 2009 - - Germline - 2/208 cases - - - Lucy Raymond
-?/. 1 - c.1736T>C r.(?) p.(Leu579Pro) - likely benign g.150349791T>C g.151181319T>C GPR50(NM_004224.3):c.1736T>C (p.L579P) - GPR50_000023 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. 1 - c.1768_1772del r.(?) p.(Pro590CysfsTer8) - VUS g.150349823_150349827del g.151181351_151181355del GPR50(NM_004224.3):c.1768_1772delCCTAC (p.P590Cfs*8) - GPR50_000025 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. 3 2 c.1816A>G r.(?) p.(Ile606Val) - VUS g.150349871A>G g.151181399A>G I606V - GPR50_000004 recurrent, found 97 times PubMed: Tarpey 2009 - - Germline - 97/208 cases - - - Yu Sun, Lucy Raymond
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