All transcript variants in gene CASR

Information The variants shown are described using the NM_000388.3 transcript reference sequence.

428 entries on 5 pages. Showing entries 1 - 100.
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Effect     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     

P-domain     

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.-353G>A r.(?) p.(=) - - likely benign g.121902549G>A g.122183702G>A - - CASR_000280 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
-?/. - c.-279G>A r.(?) p.(=) - - likely benign g.121902623G>A g.122183776G>A - - CASR_000298 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
-/. - c.-243+536C>G r.(=) p.(=) - - benign g.121903195C>G g.122184348C>G - - CASR_000281 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
-/. - c.-243+607G>A r.(=) p.(=) - - benign g.121903266G>A g.122184419G>A - - CASR_000282 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
+/? 2 c.-10C>T r.(?) p.(=) 5'UTR  - pathogenic g.121973027C>T g.122254180C>T - - CASR_000197 copied from CASRdb Christie 2007 - - Germline - - - 0 - -
?/? 7 c1846C>G r.(?) p.(L616V) TM1  - VUS g.? - - - CASR_000049 copied from CASRdb PubMed: Stock 1999 - - Germline - - - 0 - -
+/? 2 c.2T>G r.(?) p.0? SP  - pathogenic g.121973038T>G g.122254191T>G (M1R) - CASR_000114 copied from CASRdb PubMed: De Andrade 2006 - - Germline - - - 0 - -
+/? 2 c.19dup r.(?) p.(Cys7LeufsTer41) - - pathogenic g.121973055dup g.122254208dup - - CASR_000228 copied from CASRdb PubMed: D'Souza-Li 2002 - - Germline - - - 0 - -
+/? 2 c.19dup r.(?) p.(Cys7LeufsTer41) SP  - pathogenic g.121973055dup g.122254208dup - - CASR_000074 copied from CASRdb PubMed: D'Souza-Li 2002 - - Germline - - - 0 - -
+/? 2 c.32T>C r.(?) p.(L11S) SP  - pathogenic g.121973068T>C g.122254221T>C - - CASR_000097 copied from CASRdb PubMed: Pidasheva 2005 - - Germline - - - 0 - -
+/? 2 c.38T>C r.(?) p.(L13P) SP  - pathogenic g.121973074T>C g.122254227T>C - - CASR_000095 copied from CASRdb PubMed: Miyashiro 2004 - - Germline - - - 0 - -
+/? 2 c.38T>C r.(?) p.(L13P) SP  - pathogenic g.121973074T>C g.122254227T>C - - CASR_000095 copied from CASRdb PubMed: Pidasheva 2005 - - Germline - - - 0 - -
-/? 2 c.40A>G r.(?) p.(T14A) SP  - benign g.121973076A>G g.122254229A>G - - CASR_000098 copied from CASRdb PubMed: Pidasheva 2005 - - Germline - - - 0 - -
-/? 2 c.60C>T r.(?) p.(Y20H) ECD  - benign g.121973096C>T g.122254249C>T - - CASR_000179 copied from CASRdb PubMed: Guarnieri 2010 - - Germline - - - 0 - -
+/? 2 c.61G>A r.(?) p.(G21R) ECD  - pathogenic g.121973097G>A g.122254250G>A - - CASR_000131 copied from CASRdb PubMed: Nissen 2007 - - Germline - - - 0 - -
+?/. - c.61G>A r.(?) p.(Gly21Arg) - - likely pathogenic g.121973097G>A g.122254250G>A - - CASR_000131 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
+/. - c.73C>T r.(?) p.(Arg25Ter) - - pathogenic g.121973109C>T g.122254262C>T CASR(NM_001178065.1):c.73C>T (p.R25*) - CASR_000109 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Nijmegen
+/? 2 c.73C>T r.(?) p.(R25*) ECD  - pathogenic g.121973109C>T g.122254262C>T - - CASR_000109 copied from CASRdb PubMed: Ward 2006 - - Germline - - - 0 - -
+/? 2 c.73C>T r.(?) p.(R25*) ECD  - pathogenic g.121973109C>T g.122254262C>T - - CASR_000109 copied from CASRdb Christie 2007 - - Germline - - - 0 - -
+/? 2 c.73C>T r.(?) p.(R25*) ECD  - pathogenic g.121973109C>T g.122254262C>T - - CASR_000109 copied from CASRdb Despert 2005 - - Germline - - - 0 - -
+/. - c.73C>T r.(?) p.(Arg25Ter) - - pathogenic g.121973109C>T g.122254262C>T CASR(NM_001178065.1):c.73C>T (p.R25*) - CASR_000109 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
?/. - c.77C>T r.(?) p.(Ala26Val) - - VUS g.121973113C>T g.122254266C>T - - CASR_000245 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Nijmegen
-/. - c.78C>G r.(?) p.(Ala26=) - - benign g.121973114C>G g.122254267C>G - - CASR_000246 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Nijmegen
+/? 2 c.80A>G r.(?) p.(Q27R) ECD  - pathogenic g.121973116A>G g.122254269A>G - - CASR_000048 copied from CASRdb PubMed: Chikatsu 1999 - - Germline - - - 0 - -
+/? 2 c.85A>G r.(?) p.(K29E) ECD  - pathogenic g.121973121A>G g.122254274A>G - - CASR_000089 copied from CASRdb PubMed: Hu 2004 - - Germline - - - 0 - -
?/. - c.109C>T r.(?) p.(Leu37Phe) - - VUS g.121973145C>T g.122254298C>T - - CASR_000295 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
+/? 2 c.115C>G r.(?) p.(P39A) ECD  - pathogenic g.121973151C>G g.122254304C>G - - CASR_000001 copied from CASRdb PubMed: Aida 1995 - - Germline - - - 0 - -
+/? 2 c.118A>T r.(?) p.(I40F) ECD  - pathogenic g.121973154A>T g.122254307A>T - - CASR_000077 copied from CASRdb PubMed: Vargas-Poussou 2002 - - Germline - - - 0 - -
+/? 2 c.125T>G r.(?) p.(F42S) ECD  - pathogenic g.121973161T>G g.122254314T>G - - CASR_000167 copied from CASRdb PubMed: Cole 2009 - - Germline - - - 0 - -
+/? 2 c.141A>C r.(?) p.(K47N) ECD  - pathogenic g.121973177A>C g.122254330A>C - - CASR_000046 copied from CASRdb PubMed: Okazaki 1999 - - Germline - - - 0 - -
?/. - c.146A>G r.(?) p.(Gln49Arg) - - VUS g.121973182A>G g.122254335A>G CASR(NM_001178065.1):c.146A>G (p.Q49R) - CASR_000283 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+/? 2 c.157T>C r.(?) p.(S53P) ECD  - pathogenic g.121973193T>C g.122254346T>C - - CASR_000015 copied from CASRdb PubMed: Heath 1996 - - Germline - - - 0 - -
+/. - c.164C>T r.(?) p.(Pro55Leu) - - pathogenic g.121973200C>T g.122254353C>T - - CASR_000016 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Nijmegen
+/? 2 c.164C>T r.(?) p.(P55L) ECD  - pathogenic g.121973200C>T g.122254353C>T - - CASR_000016 copied from CASRdb PubMed: Heath 1996 - - Germline - - - 0 - -
+/? 2 c.164C>T r.(?) p.(P55L) ECD  - pathogenic g.121973200C>T g.122254353C>T - - CASR_000016 copied from CASRdb PubMed: Pearce 1995 - - Germline - - - 0 - -
+/? 2 c.164C>T r.(?) p.(P55L) ECD  - pathogenic g.121973200C>T g.122254353C>T - - CASR_000016 copied from CASRdb PubMed: Fukimoto 2001 - - Germline - - - 0 - -
+/? 2 c.164C>T r.(?) p.(P55L) ECD  - pathogenic g.121973200C>T g.122254353C>T - - CASR_000016 copied from CASRdb PubMed: Cetani 2003 - - Germline - - - 0 - -
+/? 2 c.164C>T r.(?) p.(P55L) ECD  - pathogenic g.121973200C>T g.122254353C>T - - CASR_000016 copied from CASRdb PubMed: Speer 2003 - - Germline - - - 0 - -
+/? 2 c.164C>T r.(?) p.(P55L) ECD  - pathogenic g.121973200C>T g.122254353C>T - - CASR_000016 copied from CASRdb PubMed: Cole 2009 - - Germline - - - 0 - -
+/? 2 c.164C>T r.(?) p.(P55L) ECD  - pathogenic g.121973200C>T g.122254353C>T - - CASR_000016 copied from CASRdb PubMed: Guarnieri 2010 - - Germline - - - 0 - -
+/? 2 c.164C>T r.(?) p.(P55L) ECD  - pathogenic g.121973200C>T g.122254353C>T - - CASR_000016 copied from CASRdb Haag 2005 - - Germline - - - 0 - -
+/? 2 c.179G>T r.(?) p.(C60F) ECD  - pathogenic g.121973215G>T g.122254368G>T - - CASR_000090 copied from CASRdb PubMed: Waller 2004 - - Germline - - - 0 - -
+/? 2 c.179G>T r.(?) p.(C60F) ECD  - pathogenic g.121973215G>T g.122254368G>T - - CASR_000090 copied from CASRdb Christie 2007 - - Germline - - - 0 - -
+/? 2 c.185G>T r.(?) p.(R62M) ECD  - pathogenic g.121973221G>T g.122254374G>T - - CASR_000002 copied from CASRdb PubMed: Chou 1995 - - Germline - - - 0 - -
+/? 2i c.185+1G>C r.spl p.? - - pathogenic g.121973222G>C g.122254375G>C - - CASR_000156 copied from CASRdb PubMed: Cetani 2009 - - Germline - - - 0 - -
+/? 2i c.186-1G>T r.spl p.? - - pathogenic g.121975927G>T g.122257080G>T - - CASR_000073 copied from CASRdb PubMed: D'Souza-Li 2002 - - Germline - - - 0 - -
+/? 3 c.196C>T r.(?) p.(R66C) ECD  - pathogenic g.121975938C>T g.122257091C>T - - CASR_000003 copied from CASRdb PubMed: Chou 1995 - - Germline - - - 0 - -
+/? 3 c.197G>A r.(?) p.(R66H) ECD  - pathogenic g.121975939G>A g.122257092G>A - - CASR_000111 copied from CASRdb PubMed: Pidasheva 2006 - - Germline - - - 0 - -
+/? 3 c.206G>A r.(?) p.(R69H) ECD  - pathogenic g.121975948G>A g.122257101G>A - - CASR_000217 copied from CASRdb Rodriguez 2009 - - Germline - - - 0 - -
+/? 3 c.243A>G r.(?) p.(I81M) ECD  - pathogenic g.121975985A>G g.122257138A>G - - CASR_000168 copied from CASRdb PubMed: Cole 2009 - - Germline - - - 0 - -
-?/. - c.277C>T r.(?) p.(Leu93=) - - likely benign g.121976019C>T - - - CASR_000299 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
+/? 3 c.280G>C r.(?) p.(G94R) ECD  - pathogenic g.121976022G>C g.122257175G>C - - CASR_000207 copied from CASRdb Defrance-Faivre 2008 - - Germline - - - 0 - -
+/? 3 c.280G>T r.(?) p.(G94*) ECD  - pathogenic g.121976022G>T g.122257175G>T - - CASR_000092 copied from CASRdb PubMed: Ward 2004 - - Germline - - - 0 - -
+/? 3 c.280G>T r.(?) p.(G94*) ECD  - pathogenic g.121976022G>T g.122257175G>T - - CASR_000092 copied from CASRdb Burrows 2001 - - Germline - - - 0 - -
+/? 3 c.299C>T r.(?) p.(T100I) ECD  - pathogenic g.121976041C>T g.122257194C>T - - CASR_000087 copied from CASRdb PubMed: Warner 2004 - - Germline - - - 0 - -
+/? 3 c.346G>A r.(?) p.(A116T) ECD  - pathogenic g.121976088G>A g.122257241G>A - - CASR_000030 copied from CASRdb PubMed: Baron 1996 - - Germline - - - 0 - -
+/? 3 c.346G>C r.(?) p.(A116P) ECD  - pathogenic g.121976088G>C g.122257241G>C - - CASR_000191 copied from CASRdb Christie 2007 - - Germline - - - 0 - -
+/. - c.350A>G r.(?) p.(Gln117Arg) - - pathogenic g.121976092A>G g.122257245A>G - - CASR_000284 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
+/? 3 c.354C>A r.(?) p.(N118K) ECD  - pathogenic g.121976096C>A g.122257249C>A - - CASR_000036 copied from CASRdb PubMed: Pearce 1996 - - Germline - - - 0 - -
+/? 3 c.354C>G r.(?) p.(N118K) ECD  - pathogenic g.121976096C>G g.122257249C>G - - CASR_000041 copied from CASRdb PubMed: De Luca 1997 - - Germline - - - 0 - -
+/? 3 c.354C>G r.(?) p.(N118K) ECD  - pathogenic g.121976096C>G g.122257249C>G - - CASR_000041 copied from CASRdb PubMed: Cole 2009 - - Germline - - - 0 - -
+/? 3 c.372C>A r.(?) p.(N124K) ECD  - pathogenic g.121976114C>A g.122257267C>A - - CASR_000076 copied from CASRdb PubMed: Hu 2002 - - Germline - - - 0 - -
+/? 3 c.373C>T r.(?) p.(L125F) ECD  - pathogenic g.121976115C>T g.122257268C>T - - CASR_000163 copied from CASRdb PubMed: Cole 2009 - - Germline - - - 0 - -
+/? 3 c.374T>C r.(?) p.(L125P) ECD  - pathogenic g.121976116T>C g.122257269T>C - - CASR_000064 copied from CASRdb PubMed: Lienhardt 2001 - - Germline - - - 0 - -
+/? 3 c.374T>C r.(?) p.(L125P) ECD  - pathogenic g.121976116T>C g.122257269T>C - - CASR_000064 copied from CASRdb PubMed: Sato 2002 - - Germline - - - 0 - -
+/? 3 c.374T>C r.(?) p.(L125P) ECD  - pathogenic g.121976116T>C g.122257269T>C - - CASR_000064 copied from CASRdb PubMed: Vargas-Poussou 2002 - - Germline - - - 0 - -
+/? 3 c.374T>C r.(?) p.(L125P) - - pathogenic g.121976116T>C g.122257269T>C - - CASR_000064 copied from CASRdb PubMed: Hendy 2000 - - Germline - - - 0 - -
+/? 3 c.379G>A r.(?) p.(E127K) ECD  - pathogenic g.121976121G>A g.122257274G>A - - CASR_000061 copied from CASRdb PubMed: Lienhardt 2001 - - Germline - - - 0 - -
+/? 3 c.379G>A r.(?) p.(E127K) ECD  - pathogenic g.121976121G>A g.122257274G>A - - CASR_000061 copied from CASRdb Christie 2007 - - Germline - - - 0 - -
+/? 3 c.380A>C r.(?) p.(E127A) ECD  - pathogenic g.121976122A>C g.122257275A>C - - CASR_000007 copied from CASRdb PubMed: Pollak 1994 - - Germline - - - 0 - -
+/? 3 c.380A>G r.(?) p.(E127G) ECD  - pathogenic g.121976122A>G g.122257275A>G - - CASR_000188 copied from CASRdb Christie 2007 - - Germline - - - 0 - -
+/? 3 c.382T>C r.(?) p.(F128L) ECD  - pathogenic g.121976124T>C g.122257277T>C - - CASR_000033 copied from CASRdb PubMed: Pearce 1996 - - Germline - - - 0 - -
+/? 3 c.385T>A r.(?) p.(C129S) ECD  - pathogenic g.121976127T>A g.122257280T>A - - CASR_000060 copied from CASRdb PubMed: Hirai 2001 - - Germline - - - 0 - -
+/? 3 c.385T>C r.(?) p.(C129R) ECD  - pathogenic g.121976127T>C g.122257280T>C - - CASR_000157 copied from CASRdb PubMed: Cole 2009 - - Germline - - - 0 - -
+/? 3 c.386G>A r.(?) p.(C129Y) ECD  - pathogenic g.121976128G>A g.122257281G>A - - CASR_000101 copied from CASRdb PubMed: Burren 2005 - - Germline - - - 0 - -
+/? 3 c.386G>A r.(?) p.(C129Y) ECD  - pathogenic g.121976128G>A g.122257281G>A - - CASR_000101 copied from CASRdb Christie 2007 - - Germline - - - 0 - -
+/? 3 c.386G>A r.(?) p.(C129Y) - - pathogenic g.121976128G>A g.122257281G>A - - CASR_000101 copied from CASRdb PubMed: Burren 2005 - - Germline - - - 0 - -
+/? 3 c.386G>T r.(?) p.(C129F) ECD  - pathogenic g.121976128G>T g.122257281G>T - - CASR_000062 copied from CASRdb PubMed: Lienhardt 2001 - - Germline - - - 0 - -
+/? 3 c.386G>T r.(?) p.(C129F) - - pathogenic g.121976128G>T g.122257281G>T - - CASR_000062 copied from CASRdb PubMed: Hendy 2000 - - Germline - - - 0 - -
+/? 3 c.392G>A r.(?) p.(C131Y) ECD  - pathogenic g.121976134G>A g.122257287G>A - - CASR_000189 copied from CASRdb Christie 2007 - - Germline - - - 0 - -
+/? 3 c.392G>T r.(?) p.(C131F) ECD  - pathogenic g.121976134G>T g.122257287G>T - - CASR_000099 copied from CASRdb PubMed: Suzuki 2005 - - Germline - - - 0 - -
+/? 3 c.393C>G r.(?) p.(C131W) ECD  - pathogenic g.121976135C>G g.122257288C>G - - CASR_000078 copied from CASRdb PubMed: Watanabe 2002 - - Germline - - - 0 - -
+?/. - c.409T>C r.(?) p.(Ser137Pro) - - likely pathogenic g.121976151T>C g.122257304T>C - - CASR_000220 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Nijmegen
+/? 3 c.409T>C r.(?) p.(S137P) ECD  - pathogenic g.121976151T>C g.122257304T>C - - CASR_000220 copied from CASRdb Soie 1999 - - Germline - - - 0 - -
+?/. - c.412A>C r.(?) p.(Thr138Pro) - - likely pathogenic g.121976154A>C g.122257307A>C - - CASR_000248 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Nijmegen
+/? 3 c.413C>T r.(?) p.(T138M) ECD  - pathogenic g.121976155C>T g.122257308C>T - - CASR_000004 copied from CASRdb PubMed: Chou 1995 - - Germline - - - 0 - -
+/? 3 c.413C>T r.(?) p.(T138M) ECD  - pathogenic g.121976155C>T g.122257308C>T - - CASR_000004 copied from CASRdb PubMed: D'Souza-Li 2002 - - Germline - - - 0 - -
+?/. - c.413C>T r.(?) p.(Thr138Met) - - likely pathogenic g.121976155C>T g.122257308C>T - - CASR_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
+/? 3 c.427G>A r.(?) p.(G143R) ECD  - pathogenic g.121976169G>A g.122257322G>A 427G>C - CASR_000169 copied from CASRdb PubMed: Cole 2009 - - Germline - - - 0 - -
+/? 3 c.428G>A r.(?) p.(G143E) ECD  - pathogenic g.121976170G>A g.122257323G>A - - CASR_000005 copied from CASRdb PubMed: Chou 1995 - - Germline - - - 0 - -
+/? 3 c.452C>G r.(?) p.(T151R) ECD  - pathogenic g.121976194C>G g.122257347C>G - - CASR_000211 copied from CASRdb Haag 2005 - - Germline - - - 0 - -
+/? 3 c.452C>G r.(?) p.(T151R) - - pathogenic g.121976194C>G g.122257347C>G - - CASR_000211 copied from CASRdb PubMed: Letz 2010 - - Germline - - - 0 - -
+/? 3 c.452C>T r.(?) p.(T151M) ECD  - pathogenic g.121976194C>T g.122257347C>T - - CASR_000028 copied from CASRdb PubMed: Lovlie 1996 - - Germline - - - 0 - -
+/? 3 c.452C>T r.(?) p.(T151M) ECD  - pathogenic g.121976194C>T g.122257347C>T - - CASR_000028 copied from CASRdb PubMed: Hoff 1999 - - Germline - - - 0 - -
+/? 3 c.452C>T r.(?) p.(T151M) ECD  - pathogenic g.121976194C>T g.122257347C>T - - CASR_000028 copied from CASRdb Pearce 1996 - - Germline - - - 0 - -
+/? 3 c.472G>A r.(?) p.(G158R) ECD  - pathogenic g.121976214G>A g.122257367G>A 472G>C - CASR_000170 copied from CASRdb PubMed: Cole 2009 - - Germline - - - 0 - -
?/. - c.472G>C r.(?) p.(Gly158Arg) - - VUS g.121976214G>C g.122257367G>C - - CASR_000249 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Nijmegen
+/? 3 c.476T>C r.(?) p.(L159P) ECD  - pathogenic g.121976218T>C g.122257371T>C - - CASR_000067 copied from CASRdb PubMed: Simonds 2002 - - Germline - - - 0 - -
+?/. - c.476T>G r.(?) p.(Leu159Arg) - - likely pathogenic g.121976218T>G g.122257371T>G - - CASR_000222 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Nijmegen
+/? 3 c.476T>G r.(?) p.(L159R) - - pathogenic g.121976218T>G g.122257371T>G - - CASR_000222 copied from CASRdb PubMed: Ho 2010 - - Germline - - - 0 - -
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