All variants in the GPR173 gene

Information The variants shown are described using the NM_018969.5 transcript reference sequence.

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

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     
?/. - c.? r.(?) p.(Val143Ala) - VUS g.? - - - USP9X_000005 - PubMed: Heidet 2017 - - Germline - - - 0 - Johan den Dunnen
?/. - c.-97-152_-97-151del r.(=) p.(=) - VUS g.53105555_53105556del g.53076373_53076374del - - GPR173_000004 - - - - Germline - - - - - Yu Sun
-?/. - c.87G>A r.(=) p.(=) - likely benign g.53105890G>A g.53076708G>A L29L - GPR173_000006 recurrent, found 23 times PubMed: Tarpey 2009 - - Germline - 23/208 cases - 0 - Lucy Raymond
-?/. - c.220G>A r.(?) p.(Val74Ile) - likely benign g.53106023G>A g.53076841G>A GPR173(NM_018969.5):c.220G>A (p.(Val74Ile)) - GPR173_000008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-?/. - c.355G>A r.(?) p.(Val119Ile) - likely benign g.53106158G>A g.53076976G>A GPR173(NM_018969.5):c.355G>A (p.V119I) - GPR173_000009 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. - c.394G>A r.(?) p.(Ala132Thr) - likely benign g.53106197G>A - GPR173(NM_018969.5):c.394G>A (p.A132T) - GPR173_000015 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. - c.658G>A r.(?) p.(Val220Met) - likely benign g.53106461G>A g.53077279G>A GPR173(NM_018969.5):c.658G>A (p.V220M) - GPR173_000010 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. - c.831G>C r.(?) p.(Glu277Asp) - VUS g.53106634G>C g.53077452G>C GPR173(NM_018969.5):c.831G>C (p.E277D) - GPR173_000011 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. - c.1062C>T r.(=) p.(=) - likely benign g.53106865C>T g.53077683C>T H354H - GPR173_000007 recurrent, found 30 times PubMed: Tarpey 2009 - - Germline - 30/208 cases - 0 - Lucy Raymond
?/. - c.1072T>C r.(?) p.(Trp358Arg) - VUS g.53106875T>C g.53077693T>C GPR173(NM_018969.5):c.1072T>C (p.W358R) - GPR173_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Rotterdam
?/. - c.*300_*303dup r.(=) p.(=) - VUS g.53107225_53107228dup g.53078043_53078046dup - - GPR173_000001 - - - - Germline - - - - - Yu Sun
?/. - c.*300_*303dup r.(=) p.(=) - VUS g.53107225_53107228dup g.53078043_53078046dup - - GPR173_000001 - - - - Germline - - - - - Yu Sun
?/. - c.*302_*303dup r.(=) p.(=) - VUS g.53107227_53107228dup g.53078045_53078046dup - - GPR173_000002 - - - - Germline - - - - - Yu Sun
-?/. - c.*4850_*4855dup r.(=) p.(=) - likely benign g.53111775_53111780dup g.53082593_53082598dup TSPYL2(NM_022117.3):c.95_100dupCGCCGC (p.P32_P33dup) - GPR173_000014 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-/. - c.*4963C>G r.(=) p.(=) - benign g.53111888C>G g.53082706C>G TSPYL2(NM_022117.3):c.208C>G (p.L70V, p.(Leu70Val)) - TSPYL2_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Rotterdam
?/. - c.*4963C>G r.(=) p.(=) - VUS g.53111888C>G g.53082706C>G TSPYL2(NM_022117.3):c.208C>G (p.L70V, p.(Leu70Val)) - TSPYL2_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Leiden
-?/. - c.*5155G>C r.(=) p.(=) - likely benign g.53112080G>C - TSPYL2(NM_022117.3):c.400G>C (p.(Val134Leu)) - GPR173_000016 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
?/. - c.*5287_*5292del r.(=) p.(=) - VUS g.53112212_53112217del g.53083030_53083035del TSPYL2(NM_022117.3):c.517_522del (p.(Asp174_Glu175del)) - TSPYL2_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Leiden
?/. - c.*5329C>T r.(=) p.(=) - VUS g.53112254C>T g.53083072C>T TSPYL2(NM_022117.3):c.574C>T (p.R192W) - TSPYL2_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Rotterdam
-?/. - c.*6885G>A r.(=) p.(=) - likely benign g.53113810G>A g.53084628G>A TSPYL2(NM_022117.3):c.885+6G>A (p.(=)) - GPR173_000012 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-?/. - c.*7111C>T r.(=) p.(=) - likely benign g.53114036C>T g.53084854C>T TSPYL2(NM_022117.3):c.985C>T (p.(Arg329Cys)) - GPR173_000013 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
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