All variants in the AR gene

Information The variants shown are described using the NM_000044.3 transcript reference sequence.

1627 entries on 17 pages. Showing entries 1 - 100.
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Effect     

Exon     

AscendingDNA change (cDNA)     

Haplotype     

RNA change     

Protein     

P-domain     

Enzyme activity     

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     
+/. 1 c.1500T>? - r.(?) p.(=) N-term - - pathogenic g.? - (Pro500Pro) - AR_000509 - Steinkamp et al. Cancer Res 69: 4434-4442, 2009 - - Somatic - - - 0 - Bruce Gottlieb
+/. 1 c.? - r.(?) p.(Gly489fs*) N-term Bmax low - pathogenic g.? - - - AR_000000 - PubMed: Ahmed 2000 - - Germline - - - 0 - Bruce Gottlieb
+/. 2i c.? - r.spl? p.? - Bmax zero - pathogenic g.? - - - AR_000000 - PubMed: Ahmed 2000 - - Germline - - - 0 - Bruce Gottlieb
+/. 2i c.? - r.spl? p.? - - - pathogenic g.? - - - AR_000000 - PubMed: Ahmed 2000 - - Germline - - - 0 - Bruce Gottlieb
+/. 3 c.? - r.(?) p.? DBD Bmax zero - pathogenic g.? - - - AR_000000 - PubMed: Ahmed 2000 - - Germline - - - 0 - Bruce Gottlieb
+/. 3 c.? - r.(?) p.? DBD - - pathogenic g.? - - - AR_000000 - PubMed: Ahmed 2000 - - Germline - - - 0 - Bruce Gottlieb
+/. 1 c.? - r.(?) p.(Ser83fs*) N-term Bmax zero; kD zero - pathogenic g.? - - - AR_000000 - PubMed: Audi 2010 - - Germline - - - 0 - Bruce Gottlieb
+/. ? c.? - r.(?) p.? - - - pathogenic g.? - - - AR_000000 - PubMed: Audi 2010 - - Germline - - - 0 - Lucy Raymond
+/. 2 c.? - r.(?) p.? - - - pathogenic g.? - - - AR_000000 no immunoreactive AR PubMed: Avila 2002 - - Germline - - - 0 - Bruce Gottlieb
+/. 2 c.? - r.(?) p.? - - - pathogenic g.? - - - AR_000000 no immunoreactive AR PubMed: Avila 2002 - - Germline - - - 0 - Bruce Gottlieb
+/. 2i c.? - r.(?) p.? - - - pathogenic g.? - - - AR_000000 - PubMed: Boehmer 2001 - - Germline - - - 0 - Bruce Gottlieb
+/. 4 c.? - r.(?) p.(Val716*) LBD - - pathogenic g.? - - - AR_000000 - PubMed: Bouvattier 2002 - - Germline - - - 0 - Bruce Gottlieb
+/. 7 c.? - r.(?) p.(Asn849fs*) LBD - - pathogenic g.? - - - AR_000000 - PubMed: Cheikhelard 2008 - - Germline - - - 0 - Bruce Gottlieb
+/. 7 c.? - r.(?) p.(Val867fs*) LBD - - pathogenic g.? - - - AR_000000 - PubMed: Cheikhelard 2008 - - Germline - - - 0 - Bruce Gottlieb
+/. 7 c.? - r.(?) p.(Val867fs*) LBD - - pathogenic g.? - - - AR_000000 - PubMed: Cheikhelard 2008 - - Germline - - - 0 - Bruce Gottlieb
+/. 1 c.? - r.(?) 142 N-term - - pathogenic g.? - - - AR_000000 - PubMed: Hiort 1996 - - Germline - - - 0 - Bruce Gottlieb
+/. 3 c.? - r.(?) p.? DBD - - pathogenic g.? - - - AR_000000 - PubMed: Hiort 1996 - - Germline - - - 0 - Bruce Gottlieb
+/. ? c.? - r.(?) p.? - - - pathogenic g.? - - - AR_000000 - PubMed: Melo 2005 - - Germline - - - 0 - Lucy Raymond
+/. 4 c.? - r.(?) p.? LBD - - pathogenic g.? - - - AR_000000 - Aiken et al. Am J Obs & Gyn 165:1891-1894, 1991 - - Germline - - - 0 - Bruce Gottlieb
+/. 5 c.? - r.(?) p.(Tyr?Arg) LBD Bmax zero - pathogenic g.? - - - AR_000000 - Marcelli et al. 74th US Endo Soc Meetings: Abstr. 224, 1992 - - Germline - - - 0 - Bruce Gottlieb
-/- 8 c.? - r.(?) p.? 3' UTR - - benign g.? - - - AR_000000 - Paz et al. European Urology 31: 209-215, 1997 - - Somatic - - - 0 - Bruce Gottlieb
+/. 2 c.? - r.(?) p.? - - - pathogenic g.? - - - AR_000000 - Quigley et al. J Cell Biochem Suppl 16C. Abstr. L323, 1992 - - Germline - - - 0 - Bruce Gottlieb
+/+ 3 c.? - r.(?) p.? DBD Bmax high; kD normal - pathogenic g.? - - - AR_000000 produces internally deleted protein Quigley et al. Mol Endocrinol 6: 1103, 1992 - - Germline - - - 0 - Bruce Gottlieb
+/. 7 c.? - r.(?) p.? LBD - - pathogenic g.? - insATG - AR_000000 ATG insertion at codon 869 Scheiber et al. J Pediatric Endo Metab 16: 367-373, 2003 - - Germline - - - 0 - Bruce Gottlieb
+/. 1 c.? - r.(?) p.(Arg485Cys) N-term - - pathogenic g.? - - - AR_000000 AR23 Steinkamp et al. Cancer Res 69: 4434-4442, 2009 - - Somatic - - - 0 - Bruce Gottlieb
+/. 1 c.? - r.(?) p.(Arg485Cys) N-term - - pathogenic g.? - - - AR_000000 - Steinkamp et al. Cancer Res 69: 4434-4442, 2009 - - Somatic - - - 0 - Bruce Gottlieb
+/. 1 c.? - r.(?) p.(Arg485Cys) N-term - - pathogenic g.? - - - AR_000000 - Steinkamp et al. Cancer Res 69: 4434-4442, 2009 - - Somatic - - - 0 - Bruce Gottlieb
+/. 1 c.? - r.(?) p.(Arg485Thr) N-term - - pathogenic g.? - - - AR_000000 - Steinkamp et al. Cancer Res 69: 4434-4442, 2009 - - Somatic - - - 0 - Bruce Gottlieb
+/. 5 c.? - r.(?) p.(=) LBD - - pathogenic g.? - (Arg761Arg) - AR_000000 - Steinkamp et al. Cancer Res 69: 4434-4442, 2009 - - Somatic - - - 0 - Bruce Gottlieb
+/. 8 c.? - r.(?) p.(Gln828*) N-term - - pathogenic g.? - - - AR_000000 - Steinkamp et al. Cancer Res 69: 4434-4442, 2009 - - Somatic - - - 0 - Bruce Gottlieb
+/. 5 c.? - r.(?) p.(Arg761fs*) LBD Bmax zero - pathogenic g.? - - - AR_000000 - Vichlis et al. J Hum Genet 48: 346-351, 2003 - - Germline - - - 0 - Bruce Gottlieb
+/+ 8 c.? - r.(?) p.(Phe917*) LBD - - pathogenic g.? - - - AR_000000 neg. N/C interaction Werner et al. Sex Dev 2: 73-83, 2008 - - Germline - - - 0 - Bruce Gottlieb
+/+ 1 c.? - r.(?) p.(=) - - - pathogenic g.? - 1034T>G - AR_000000 - Yeh et al. Int J Cancer 120: 1610-1617, 2007 - - Somatic - - - 0 - Bruce Gottlieb
+/. 1 c.?C>T - r.(?) p.(=) N-term - - pathogenic g.? - 2558C>T (Tyr481Tyr) - AR_000000 - Yeh et al. Int J Cancer 120: 1610-1617, 2007 - - Somatic - - - 0 - Bruce Gottlieb
+/. 5 c.?del - r.(?) p.? LBD Bmax zero - pathogenic g.? - - - AR_000000 affected aunt exon 6-7deletion only Maclean et al. J Clin Invest, 91: 1123, 1993 - - Germline - - - 0 - Bruce Gottlieb
+/. 1_8 c.(?_-1115)_(*436_?)del - r.0 p.0 - Bmax zero - pathogenic g.? - - - AR_000122 - PubMed: Ahmed 2000 - - Germline - - - 0 - Bruce Gottlieb
+/. 1_8 c.(?_-1115)_(*436_?)del - r.0 p.0 - Bmax zero - pathogenic g.? - - - AR_000122 - PubMed: Hiort 1996 - - Germline - - - 0 - Bruce Gottlieb
+/. 1_8 c.(?_-1115)_(*436_?)del - r.0 p.0 - Bmax zero - pathogenic g.? - - - AR_000122 - Quigley et al. J Clin Endocrinol Metab 74: 927-933, 1992 - - Germline - - - 0 - Bruce Gottlieb
+/. 1_8 c.(?_-1115)_(*436_?)del - r.0 p.0 - Bmax zero - pathogenic g.? - - - AR_000122 deletion breakpoints not yet defined Trifiro et al. Mol Cell Endocrinol 75: 37-47, 1991 - - Germline - - - 0 - Bruce Gottlieb
+/. 1 c.-912C>A - r.(?) p.(=) - - - pathogenic g.66764077C>A g.67544235C>A 203C>A - AR_000148 pos +214 from transcription initiation site AR-TIS II Variant Error [EREF/EREF]: This genomic variant does not match the reference sequence; the transcript variant does not match the reference sequence either. Please fix this entry and then remove this message. PubMed: Crocitto 1997 - - Germline - - - 0 - Bruce Gottlieb
+/. 1 c.-800G>T - r.(?) p.? - - - pathogenic g.66764189G>T g.67544347G>T (415G>T) - AR_000147 pos +2 from transcription initiation site AR-TIS II Variant Error [EREF/EREF]: This genomic variant does not match the reference sequence; the transcript variant does not match the reference sequence either. Please fix this entry and then remove this message. PubMed: Crocitto 1997 - - Germline - - - 0 - Bruce Gottlieb
+/. 1 c.(1580_1581)G>A - r.(?) p.(Trp527*) N-term - - pathogenic g.(66766568_66766569)G>A - - - AR_000000 - Hyytinen et al. Lab Invest. 82: 1591-1598, 2002 - - Somatic - - - 0 - Bruce Gottlieb
+/. 2 c.(1630_1660)del[17] - r.? p.? DBD - - pathogenic (recessive) g.(66863111_66863141)[del17] - del 17bp H543fsX544 - AR_000000 - PubMed: Audi 2010 - - Germline - - - 0 - Bruce Gottlieb
+/+ 2 c.(1768+1_1769-1)? - r.1768_1769ins1769-1_1769-1 p.Glu589_Gly590ins23 - - - pathogenic g.(66863250_66905851)? - 2883_2884ins69 - AR_000439 AR23 variant, ins 69 nt of intron 2 = 23 aa, affects AR trafficking Jagla et al.Endocrinology 148: 4334-43, 2007 - - Somatic - - - 0 - Bruce Gottlieb
+/. 2i c.(1768+1_1769-1)? - r.1768_1769ins1769-1_1769-1 p.Glu589_Gly590ins23 - - - pathogenic g.(66863250_66905851)? - - - AR_000439 AR23 splice variant, ins 69 nt of intron 2, found in 5/8 cases Steinkamp et al. Cancer Res 69: 4434-4442, 2009 - - Somatic - - - 0 - Bruce Gottlieb
+/. 2i c.(1768+1_1769-1)del - r.spl p.? - Bmax normal; kD high - pathogenic g.(66863250_66905851)del - - - AR_000000 deletion >6 kb intron 2, affects splicing PubMed: Boehmer 2001 - - Germline - - - 0 - Bruce Gottlieb
+/. 3 c.(1768+1_1886-1)? - r.1769_1885del p.? - - - pathogenic g.(66863250_66931243)? - - - AR_000000 higher express variant in 7/13 breast cancer PubMed: Zhu 1997 - - Somatic - - - 0 - Bruce Gottlieb
+/. - c.(92_331)ins(54) CAG[41] r.(?) p.(Gln58[41]) - - - pathogenic (recessive) g.(66765080_66765319)ins(54) g.(67545238_67545477)ins(54) CAG-41 - AR_000730 - PubMed: Udd 1998 - - Germline yes - - 0 - Johan den Dunnen
+/. - c.(92_331)ins(57) CAG[42] r.(?) p.(Gln58[42]) - - - pathogenic (recessive) g.(66765080_66765319)ins(57) g.(67545238_67545477)ins(57) CAG-42 - AR_000731 - PubMed: Udd 1998 - - Germline yes - - 0 - Johan den Dunnen
+/. - c.(92_331)ins(63) CAG[44] r.(?) p.(Gln58[44]) - - - pathogenic (recessive) g.(66765080_66765319)ins(63) g.(67545238_67545477)ins(63) CAG-44 - AR_000729 - PubMed: Udd 1998 - - Germline yes - - 0 - Johan den Dunnen
+/. - c.(92_331)ins(63) CAG[44] r.(?) p.(Gln58[44]) - - - pathogenic g.(66765080_66765319)ins(63) g.(67545238_67545477)ins(63) CAG-44 - AR_000729 - PubMed: Udd 1998 - - Germline yes - - 0 - Johan den Dunnen
+/. - c.(92_331)ins(63) CAG[44] r.(?) p.(Gln58[44]) - - - pathogenic (recessive) g.(66765080_66765319)ins(63) g.(67545238_67545477)ins(63) CAG-44 - AR_000729 - PubMed: Udd 1998 - - Germline yes - - 0 - Johan den Dunnen
+/. - c.(92_331)ins(66) CAG[45] r.(?) p.(Gln58[45]) - - - pathogenic g.(66765080_66765319)ins(66) g.(67545238_67545477)ins(66) CAG-45 - AR_000727 - PubMed: Udd 1998 - - Germline yes - - 0 - Johan den Dunnen
+/. - c.(92_331)ins(66) CAG[45] r.(?) p.(Gln58[45]) - - - pathogenic (recessive) g.(66765080_66765319)ins(66) g.(67545238_67545477)ins(66) CAG-45 - AR_000727 - PubMed: Udd 1998 - - Germline yes - - 0 - Johan den Dunnen
+/. - c.(92_331)ins(69) CAG[46] r.(?) p.(Gln58[46]) - - - pathogenic (recessive) g.(66765080_66765319)ins(69) g.(67545238_67545477)ins(69) CAG-46 - AR_000732 - PubMed: Udd 1998 - - Germline yes - - 0 - Johan den Dunnen
+/. - c.(92_331)ins(72) CAG[47] r.(?) p.(Gln58[47]) - - - pathogenic (recessive) g.(66765080_66765319)ins(72) g.(67545238_67545477)ins(72) CAG-47 - AR_000728 - PubMed: Udd 1998 - - Germline yes - - 0 - Johan den Dunnen
+/. - c.(92_331)ins(72) CAG[47] r.(?) p.(Gln58[47]) - - - pathogenic (recessive) g.(66765080_66765319)ins(72) g.(67545238_67545477)ins(72) CAG-47 - AR_000728 - PubMed: Udd 1998 - - Germline yes - - 0 - Johan den Dunnen
+/. 1i c.92_331[ins120_156] CAG[40_52] r.(?) p.(Arg31_Asp111delinsHis) N-term - - pathogenic g.66765080_66765319[ins120_156] - - - AR_000450 expansion of repeat from 40-52 CAGs PubMed: La Spada 1991 - - Germline yes - - 0 - Bruce Gottlieb
+/. - c.? - r.? p.? - - - pathogenic (recessive) g.? - G235R + c.712ins[GGACC]2 - AR_000110 - PubMed: Häberle and Koch 2004 - - Germline - - - 0 - Johan den Dunnen
+/. 1 c.4G>A - r.(?) p.(Glu2Lys) N-term Bmax low; kD high - pathogenic g.66764992G>A g.67545150G>A 1119G>A - AR_000136 - PubMed: Audi 2010 - - Germline - - - 0 - Bruce Gottlieb
+/+ 1 c.4G>A - r.(?) p.(Glu2Lys) N-term k high - pathogenic g.66764992G>A g.67545150G>A 1119G>A - AR_000136 variant protein 20-50% reduced PubMed: Choong 1996 - - Germline - - - 0 - Bruce Gottlieb
-?/. - c.7G>A - r.(?) p.(Val3Met) - - - likely benign g.66764995G>A g.67545153G>A AR(NM_000044.3):c.7G>A (p.(Val3Met)) - AR_000627 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Leiden
+/. 1 c.19del - r.(?) p.(Leu7TrpfsTer27) N-term - - pathogenic g.66765007del g.67545165del 1134delC - AR_000328 - PubMed: Barbaro 2007 - - Germline - - - 0 - Bruce Gottlieb
+/. 1 c.39_42dup - r.(?) p.(Pro15fs*) N-term - - pathogenic g.66765027_66765030dup g.67545185_67545188dup 1154_1157dupGCCG - AR_000398 - PubMed: Audi 2010 - - Germline - - - 0 - Bruce Gottlieb
-?/. - c.72G>A - r.(?) p.(Gln24=) - - - likely benign g.66765060G>A - AR(NM_000044.4):c.72G>A (p.Q24=) - AR_000724 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+/. 1 c.82C>T - r.(?) p.(Q28X - - - pathogenic g.66765070C>T g.67545228C>T - - AR_000315 - PubMed: Katayama 2006 - - Germline - - - 0 - Lucy Raymond
+/. 1 c.115_117del - r.(?) p.(Pro39del) N-term - - pathogenic g.66765103_66765105del g.67545261_67545263del 1230_1232delCCC - AR_000446 - Jung et al. Human Genetics 114: 222, 2004 - - Germline - - - 0 - Bruce Gottlieb
+/. 1 c.118del - r.(?) p.(Arg40GlyfsTer135) N-term - - pathogenic g.66765106del g.67545264del 1233delA - AR_000420 - Decaestecker et al.Fertility & Sterility 89: 1260 e3-7, 2008 - - Germline - - - 0 - Bruce Gottlieb
-?/. - c.119G>A - r.(?) p.(Arg40Lys) - - - likely benign g.66765107G>A g.67545265G>A AR(NM_000044.4):c.119G>A (p.R40K) - AR_000718 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+/. 1 c.125del - r.(?) p.(Pro42GlnfsTer133) N-term Bmax zero - pathogenic g.66765113del g.67545271del 1240delC - AR_000234 - PubMed: Boehmer 2001 - - Germline - - - 0 - Bruce Gottlieb
+/. - c.127G>T - r.(?) p.(Glu43Ter) - - - pathogenic g.66765115G>T g.67545273G>T AR(NM_000044.4):c.127G>T (p.E43*) - AR_000628 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Rotterdam
+/. 1 c.128A>G - r.(?) p.(Glu43Gly) N-term - - pathogenic g.66765116A>G g.67545274A>G 1243A>G - AR_000499 - Steinkamp et al. Cancer Res 69: 4434-4442, 2009 - - Somatic - - - 0 - Bruce Gottlieb
+/. - c.159_171del - r.(?) p.(Leu54SerfsTer117) - - - pathogenic g.66765147_66765159del g.67545305_67545317del AR(NM_000044.4):c.159_171delTTTGCTGCTGCTG (p.L54Sfs*117) - AR_000629 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Rotterdam
+/. 1 c.161T>C - r.(?) p.(Leu54Ser) N-term - - pathogenic g.66765149T>C g.67545307T>C 1276T>C - AR_000549 - Tilley et al. Clinical Cancer Res. 2: 277-285, 1996 - - Somatic - - - 0 - Bruce Gottlieb
+/. 1 c.163dup - r.(?) p.(Leu55ProfsTer29) N-term - - pathogenic g.66765151dup g.67545309dup 1278_1279insC - AR_000353 - PubMed: Philibert 2009 - - Germline - - - 0 - Bruce Gottlieb
+/. 1 c.170T>A - r.(?) p.(Leu57Gln) N-term - - pathogenic g.66765158T>A g.67545316T>A - - AR_000411 - Chelnski et al. The Prostate 47: 66-75, 2001 - - Somatic - - - 0 - Bruce Gottlieb
+/. 1 c.170T>A - r.(?) p.(Leu57Gln) N-term - - pathogenic g.66765158T>A g.67545316T>A 1285T>A - AR_000411 - Tilley et al. Clinical Cancer Res. 2: 277-285, 1996 - - Somatic - - - 0 - Bruce Gottlieb
+/. 1 c.170T>A - r.(?) p.(Leu57Gln) N-term - - pathogenic g.66765158T>A g.67545316T>A 1285T>A - AR_000411 - Yeh et al. Int J Cancer 120: 1610-1617, 2007 - - Somatic - - - 0 - Bruce Gottlieb
+/. 1 c.170_172del - r.(?) p.(Leu57del) N-term - - pathogenic g.66765158_66765160del g.67545316_67545318del 1284_1286delCTG - AR_000421 seminoma Garolla et al. Encdorine Related Cancer 12: 645-655, 2005 - - Somatic - - - 0 - Bruce Gottlieb
+/. 1 c.170_172dup - r.(?) p.(Leu57dup) N-term - - pathogenic g.66765158_66765160dup g.67545316_67545318dup - - AR_000323 - PubMed: Ferlin 2006 - - Germline - - - 0 - Bruce Gottlieb
?/. - c.170_175del - r.(?) p.(Leu57_Gln58del) - - - VUS g.66765158_66765163del - AR(NM_000044.4):c.170_175delTGCAGC (p.L57_Q58del) - AR_000725 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+/. 1 c.173A>T - r.(?) p.(Gln58Leu) N-term - - pathogenic g.66765161A>T g.67545319A>T 1288A>T - AR_000267 - PubMed: Lund 2003 - - Germline - - - 0 - Bruce Gottlieb
?/. 1 c.173A>T - r.(?) p.(Gln58Leu) N-term - - VUS g.66765161A>T g.67545319A>T - - AR_000267 - Steinkamp et al. Cancer Res 69: 4434-4442, 2009 - - Somatic - - - 0 - Bruce Gottlieb
+/. 1 c.173A>T - r.(?) p.(Gln58Leu) N-term - - pathogenic g.66765161A>T g.67545319A>T - - AR_000267 - Steinkamp et al. Cancer Res 69: 4434-4442, 2009 - - Somatic - - - 0 - Bruce Gottlieb
+/. 1 c.173A>T - r.(?) p.(Gln58Leu) N-term - - pathogenic g.66765161A>T g.67545319A>T - - AR_000267 - Steinkamp et al. Cancer Res 69: 4434-4442, 2009 - - Somatic - - - 0 - Bruce Gottlieb
+/. 1 c.173A>T - r.(?) p.(Gln58Leu) DBD - - pathogenic g.66765161A>T g.67545319A>T - - AR_000267 - Steinkamp et al. Cancer Res 69: 4434-4442, 2009 - - Somatic - - - 0 - Bruce Gottlieb
+/. 1 c.173A>T - r.(?) p.(Gln58Leu) N-term - - pathogenic g.66765161A>T g.67545319A>T - - AR_000267 - Steinkamp et al. Cancer Res 69: 4434-4442, 2009 - - Somatic - - - 0 - Bruce Gottlieb
+?/. - c.173A>T - r.(?) p.(Gln58Leu) - - - likely pathogenic g.66765161A>T g.67545319A>T AR(NM_000044.4):c.173A>T (p.Q58L) - AR_000267 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Rotterdam
?/. 1 c.174_239= CAG[22] r.(?) p.(=) - - - VUS g.66765162_66765227= g.67545320_67545385= CAG-22 - AR_000000 - PubMed: Audi 2010 - - Germline - - - 0 - Bruce Gottlieb
?/. 1 c.174_239= CAG[22] r.(?) p.(=) - Bmax normal; kD normal - VUS g.66765162_66765227= g.67545320_67545385= CAG-22 - AR_000000 - PubMed: Audi 2010 - - Germline - - - 0 - Bruce Gottlieb
?/. 1 c.174_239= CAG[22] r.(?) p.(=) - - - VUS g.66765162_66765227= g.67545320_67545385= CAG-22 - AR_000000 - PubMed: Audi 2010 - - Germline - - - 0 - Bruce Gottlieb
?/. 1 c.174_239= CAG[22] r.(?) p.(=) - - - VUS g.66765162_66765227= g.67545320_67545385= CAG-22 - AR_000000 - PubMed: Audi 2010 - - Germline - - - 0 - Bruce Gottlieb
?/. 1 c.174_239= CAG[22] r.(?) p.(=) - - - VUS g.66765162_66765227= g.67545320_67545385= CAG-22 - AR_000000 - PubMed: Audi 2010 - - Germline - - - 0 - Bruce Gottlieb
?/. 1 c.174_239= CAG[22] r.(?) p.(=) - Bmax v low - VUS g.66765162_66765227= g.67545320_67545385= CAG-22 - AR_000000 - PubMed: Gottlieb 1999 - - Germline - - - 0 - Bruce Gottlieb
?/. 1 c.174_239= CAG[22] r.(?) p.(=) - Bmax low - VUS g.66765162_66765227= g.67545320_67545385= CAG-22 - AR_000000 - PubMed: MacLean 2004 - - Germline - - - 0 - Bruce Gottlieb
?/. 1 c.174_239= CAG[22] r.(?) p.(=) - Bmax low - VUS g.66765162_66765227= g.67545320_67545385= CAG-22 - AR_000000 - PubMed: Melo 2003 - - Germline - - - 0 - Bruce Gottlieb
?/. 1 c.174_239= CAG[22] r.(?) p.(=) - Bmax zero - VUS g.66765162_66765227= g.67545320_67545385= CAG-22 - AR_000000 - PubMed: Melo 2005 - - Germline - - - 0 - Bruce Gottlieb
?/. 1 c.174_239= CAG[22] r.(?) p.(=) - Bmax low; k normal - VUS g.66765162_66765227= g.67545320_67545385= CAG-22 - AR_000000 - PubMed: Pinsky 1992 - - Germline - - - 0 - Bruce Gottlieb
?/. 1 c.174_239= CAG[22] r.(?) p.(=) - Bmax low; kD normal - VUS g.66765162_66765227= g.67545320_67545385= CAG-22 - AR_000000 - Beitel et al. Hum Mol Genet, 3: 21, 1994 - - Germline - - - 0 - Bruce Gottlieb
?/. 1 c.174_239= CAG[22] r.(?) p.(=) - - - VUS g.66765162_66765227= g.67545320_67545385= CAG-22 - AR_000000 - Watanabe et al. Jpn J Clin Oncol 27: 389-393, 1997 - - Somatic - - - 0 - Bruce Gottlieb
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