Full data view for gene AR

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

83 entries on 1 page. Showing entries 1 - 83.
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Effect     

Exon     

AscendingDNA change (cDNA)     

Haplotype     

RNA change     

Protein     

P-domain     

Enzyme activity     

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     

Population     

Age at death     

VIP     

Data_av     

Treatment     

Panel size     

Owner     
+/. 1 c.?C>T - r.(?) p.(=) N-term - Parent #1 - pathogenic g.? - 2558C>T (Tyr481Tyr) - AR_000000 - Yeh et al. Int J Cancer 120: 1610-1617, 2007 - - Somatic - - - - - DNA SEQ - - ? - - sex of rearing F rF - - - - - - - 1 Bruce Gottlieb
+/. 5 c.?del - r.(?) p.? LBD Bmax zero Parent #1 - pathogenic g.? - - - AR_000000 affected aunt exon 6-7deletion only Maclean et al. J Clin Invest, 91: 1123, 1993 - - Germline - - - - - DNA SEQ - - AIS - - sex of rearing F rF - - - - - - - 1 Bruce Gottlieb
+/. 1 c.? - r.(?) p.(Gly489fs*) N-term Bmax low Parent #1 - pathogenic g.? - - - AR_000000 - PubMed: Ahmed 2000 - - Germline - - - - - DNA SEQ - - AIS - - sex of rearing F rF - - - - - - - 1 Bruce Gottlieb
+/. 2i c.? - r.spl? p.? - Bmax zero Parent #1 - pathogenic g.? - - - AR_000000 - PubMed: Ahmed 2000 - - Germline - - - - - DNA SEQ - - AIS - - sex of rearing F rF - - - - - - - 1 Bruce Gottlieb
+/. 2i c.? - r.spl? p.? - - Parent #1 - pathogenic g.? - - - AR_000000 - PubMed: Ahmed 2000 - - Germline - - - - - DNA SEQ - - AIS - - sex of rearing F rF - - - - - - - 1 Bruce Gottlieb
+/. 3 c.? - r.(?) p.? DBD Bmax zero Parent #1 - pathogenic g.? - - - AR_000000 - PubMed: Ahmed 2000 - - Germline - - - - - DNA SEQ - - AIS - - sex of rearing F rF - - - - - - - 1 Bruce Gottlieb
+/. 3 c.? - r.(?) p.? DBD - Parent #1 - pathogenic g.? - - - AR_000000 - PubMed: Ahmed 2000 - - Germline - - - - - DNA SEQ - - AIS - - sex of rearing F rF - - - - - - - 1 Bruce Gottlieb
+/. 1 c.? - r.(?) p.(Ser83fs*) N-term Bmax zero; kD zero Parent #1 - pathogenic g.? - - - AR_000000 - PubMed: Audi 2010 - - Germline - - - - - DNA SEQ - - AIS - - sex of rearing F rF - - - - - - - 1 Bruce Gottlieb
+/. ? c.? - r.(?) p.? - - Parent #1 - pathogenic g.? - - - AR_000000 - PubMed: Audi 2010 - - Germline - - - - - DNA SEQ - - AIS 19377431-Pat? PubMed: Tarpey 2009 - - - - - - - for details contact Lucy Raymond (flr24 @ cam.ac.uk) - 1 Lucy Raymond
+/. 2 c.? - r.(?) p.? - - Parent #1 - pathogenic g.? - - - AR_000000 no immunoreactive AR PubMed: Avila 2002 - - Germline - - - - - DNA SEQ - - AIS - - sex of rearing F rF - - - - - - - 1 Bruce Gottlieb
+/. 2 c.? - r.(?) p.? - - Parent #1 - pathogenic g.? - - - AR_000000 no immunoreactive AR PubMed: Avila 2002 - - Germline - - - - - DNA SEQ - - AIS - - sex of rearing F rF - - - - - - - 1 Bruce Gottlieb
+/. 2i c.? - r.(?) p.? - - Parent #1 - pathogenic g.? - - - AR_000000 - PubMed: Boehmer 2001 - - Germline - - - - - DNA SEQ - - PAIS - - sex of rearing M; related to 0749 rM - - - - - - - 1 Bruce Gottlieb
+/. 4 c.? - r.(?) p.(Val716*) LBD - Parent #1 - pathogenic g.? - - - AR_000000 - PubMed: Bouvattier 2002 - - Germline - - - - - DNA SEQ - - AIS - - sex of rearing F rF - - - - - - - 1 Bruce Gottlieb
+/. 7 c.? - r.(?) p.(Asn849fs*) LBD - Parent #1 - pathogenic g.? - - - AR_000000 - PubMed: Cheikhelard 2008 - - Germline - - - - - DNA SEQ - - AIS - - sex of rearing F rF - - - - - - - 1 Bruce Gottlieb
+/. 7 c.? - r.(?) p.(Val867fs*) LBD - Parent #1 - pathogenic g.? - - - AR_000000 - PubMed: Cheikhelard 2008 - - Germline - - - - - DNA SEQ - - AIS - - sex of rearing F rF - - - - - - - 1 Bruce Gottlieb
+/. 7 c.? - r.(?) p.(Val867fs*) LBD - Parent #1 - pathogenic g.? - - - AR_000000 - PubMed: Cheikhelard 2008 - - Germline - - - - - DNA SEQ - - AIS - - sex of rearing F rF - - - - - - - 1 Bruce Gottlieb
+/. 1 c.? - r.(?) 142 N-term - Parent #1 - pathogenic g.? - - - AR_000000 - PubMed: Hiort 1996 - - Germline - - - - - DNA SEQ - - AIS - - sex of rearing F rF - - - - - - - 1 Bruce Gottlieb
+/. 3 c.? - r.(?) p.? DBD - Parent #1 - pathogenic g.? - - - AR_000000 - PubMed: Hiort 1996 - - Germline - - - - - DNA SEQ - - AIS - - sex of rearing F rF - - - - - - - 1 Bruce Gottlieb
+/. ? c.? - r.(?) p.? - - Parent #1 - pathogenic g.? - - - AR_000000 - PubMed: Melo 2005 - - Germline - - - - - DNA SEQ - - AIS 19377430-Pat? PubMed: Tarpey 2009 - - - - - - - for details contact Lucy Raymond (flr24 @ cam.ac.uk) - 1 Lucy Raymond
+/. 4 c.? - r.(?) p.? LBD - Parent #1 - pathogenic g.? - - - AR_000000 - Aiken et al. Am J Obs & Gyn 165:1891-1894, 1991 - - Germline - - - - - DNA SEQ - - MAIS - - sex of rearing M rM - - - - - - - 1 Bruce Gottlieb
+/. 5 c.? - r.(?) p.(Tyr?Arg) LBD Bmax zero Parent #1 - pathogenic g.? - - - AR_000000 - Marcelli et al. 74th US Endo Soc Meetings: Abstr. 224, 1992 - - Germline - - - - - DNA SEQ - - AIS - - sex of rearing F rF - - - - - - - 1 Bruce Gottlieb
-/- 8 c.? - r.(?) p.? 3' UTR - Parent #1 - benign g.? - - - AR_000000 - Paz et al. European Urology 31: 209-215, 1997 - - Somatic - - - - - DNA SEQ - - cancer, prostate - - sex of rearing M rM - - - - - - - 1 Bruce Gottlieb
+/. 2 c.? - r.(?) p.? - - Parent #1 - pathogenic g.? - - - AR_000000 - Quigley et al. J Cell Biochem Suppl 16C. Abstr. L323, 1992 - - Germline - - - - - DNA SEQ - - AIS - - sex of rearing F rF - - - - - - - 1 Bruce Gottlieb
+/+ 3 c.? - r.(?) p.? DBD Bmax high; kD normal Parent #1 - pathogenic g.? - - - AR_000000 produces internally deleted protein Quigley et al. Mol Endocrinol 6: 1103, 1992 - - Germline - - - - - DNA SEQ - - AIS - - sex of rearing F rF - - - - - - - 1 Bruce Gottlieb
+/. 7 c.? - r.(?) p.? LBD - Parent #1 - pathogenic g.? - insATG - AR_000000 ATG insertion at codon 869 Scheiber et al. J Pediatric Endo Metab 16: 367-373, 2003 - - Germline - - - - - DNA SEQ - - AIS - - sex of rearing F rF - - - - - - - 1 Bruce Gottlieb
+/. 1 c.? - r.(?) p.(Arg485Cys) N-term - Unknown - pathogenic g.? - - - AR_000000 AR23 Steinkamp et al. Cancer Res 69: 4434-4442, 2009 - - Somatic - - - - - DNA SEQ - - cancer, prostate - - sex of rearing M rM - - - - - - - 1 Bruce Gottlieb
+/. 1 c.? - r.(?) p.(Arg485Cys) N-term - Unknown - pathogenic g.? - - - AR_000000 - Steinkamp et al. Cancer Res 69: 4434-4442, 2009 - - Somatic - - - - - DNA SEQ - - cancer, prostate - - sex of rearing M rM - - - - - - - 1 Bruce Gottlieb
+/. 1 c.? - r.(?) p.(Arg485Cys) N-term - Parent #1 - pathogenic g.? - - - AR_000000 - Steinkamp et al. Cancer Res 69: 4434-4442, 2009 - - Somatic - - - - - DNA SEQ - - cancer, prostate - - sex of rearing M; 2 cases rM - - - - - - - 2 Bruce Gottlieb
+/. 1 c.? - r.(?) p.(Arg485Thr) N-term - Parent #1 - pathogenic g.? - - - AR_000000 - Steinkamp et al. Cancer Res 69: 4434-4442, 2009 - - Somatic - - - - - DNA SEQ - - cancer, prostate - - sex of rearing M; 2 cases rM - - - - - - - 2 Bruce Gottlieb
+/. 5 c.? - r.(?) p.(=) LBD - Parent #1 - pathogenic g.? - (Arg761Arg) - AR_000000 - Steinkamp et al. Cancer Res 69: 4434-4442, 2009 - - Somatic - - - - - DNA SEQ - - cancer, prostate - - sex of rearing M; >2 cases rM - - - - - - - 3 Bruce Gottlieb
+/. 8 c.? - r.(?) p.(Gln828*) N-term - Unknown - pathogenic g.? - - - AR_000000 - Steinkamp et al. Cancer Res 69: 4434-4442, 2009 - - Somatic - - - - - DNA SEQ - - cancer, prostate - - sex of rearing M rM - - - - - - - 1 Bruce Gottlieb
+/. 5 c.? - r.(?) p.(Arg761fs*) LBD Bmax zero Unknown - pathogenic g.? - - - AR_000000 - Vichlis et al. J Hum Genet 48: 346-351, 2003 - - Germline - - - - - DNA SEQ - - AIS 12908100-Fam PubMed: Vichlis 2003 4-generation family, 4 affecteds, 4 unaffected carrier females rF - Mexico - - - - - 4 Bruce Gottlieb
+/+ 8 c.? - r.(?) p.(Phe917*) LBD - Parent #1 - pathogenic g.? - - - AR_000000 neg. N/C interaction Werner et al. Sex Dev 2: 73-83, 2008 - - Germline - - - - - DNA SEQ - - AIS - - sex of rearing F; affect sister and aunts rF - - - - - - - 1 Bruce Gottlieb
+/+ 1 c.? - r.(?) p.(=) - - Unknown - pathogenic g.? - 1034T>G - AR_000000 - Yeh et al. Int J Cancer 120: 1610-1617, 2007 - - Somatic - - - - - DNA SEQ - - ? - - sex of rearing M rM - - - - - - - 1 Bruce Gottlieb
?/. 1 c.174_239= CAG[22] r.(?) p.(=) - - Unknown - VUS g.66765162_66765227= g.67545320_67545385= CAG-22 - AR_000000 - PubMed: Audi 2010 - - Germline - - - - - DNA SEQ - - AIS - - sex of rearing F; sister and 2 aunts affected rF - - - - - - - 4 Bruce Gottlieb
?/. 1 c.174_239= CAG[22] r.(?) p.(=) - Bmax normal; kD normal Unknown - VUS g.66765162_66765227= g.67545320_67545385= CAG-22 - AR_000000 - PubMed: Audi 2010 - - Germline - - - - - DNA SEQ - - PAIS - - sex of rearing M rM - - - - - - - 1 Bruce Gottlieb
?/. 1 c.174_239= CAG[22] r.(?) p.(=) - - Unknown - VUS g.66765162_66765227= g.67545320_67545385= CAG-22 - AR_000000 - PubMed: Audi 2010 - - Germline - - - - - DNA SEQ - - AIS - - sex of rearing F; mother and cousin hetrozygous, cousin and aunt affected, sister wt rF - - - - - - - 3 Bruce Gottlieb
?/. 1 c.174_239= CAG[22] r.(?) p.(=) - - Unknown - VUS g.66765162_66765227= g.67545320_67545385= CAG-22 - AR_000000 - PubMed: Audi 2010 - - Germline - - - - - DNA SEQ - - AIS - - sex of rearing F; affected sister, heterozygote sister, 2 wt sisters rF - - - - - - - 3 Bruce Gottlieb
?/. 1 c.174_239= CAG[22] r.(?) p.(=) - - Unknown - VUS g.66765162_66765227= g.67545320_67545385= CAG-22 - AR_000000 - PubMed: Audi 2010 - - Germline - - - - - DNA SEQ - - AIS - - sex of rearing F; mother heterozygous carrier rF - - - - - - - 2 Bruce Gottlieb
?/. 1 c.174_239= CAG[22] r.(?) p.(=) - Bmax v low Unknown - VUS g.66765162_66765227= g.67545320_67545385= CAG-22 - AR_000000 - PubMed: Gottlieb 1999 - - Germline - - - - - DNA SEQ - - AIS - - sex of rearing F rF - - - - - - - 1 Bruce Gottlieb
?/. 1 c.174_239= CAG[22] r.(?) p.(=) - Bmax low Unknown - VUS g.66765162_66765227= g.67545320_67545385= CAG-22 - AR_000000 - PubMed: MacLean 2004 - - Germline - - - - - DNA SEQ - - AIS - - sex of rearing F rF - - - - - - - 1 Bruce Gottlieb
?/. 1 c.174_239= CAG[22] r.(?) p.(=) - Bmax low Unknown - VUS g.66765162_66765227= g.67545320_67545385= CAG-22 - AR_000000 - PubMed: Melo 2003 - - Germline - - - - - DNA SEQ - - PAIS - - sex of rearing M rM - - - - - - - 1 Bruce Gottlieb
?/. 1 c.174_239= CAG[22] r.(?) p.(=) - Bmax zero Unknown - VUS g.66765162_66765227= g.67545320_67545385= CAG-22 - AR_000000 - PubMed: Melo 2005 - - Germline - - - - - DNA SEQ - - AIS - - sex of rearing F rF - - - - - - - 1 Bruce Gottlieb
?/. 1 c.174_239= CAG[22] r.(?) p.(=) - Bmax low; k normal Unknown - VUS g.66765162_66765227= g.67545320_67545385= CAG-22 - AR_000000 - PubMed: Pinsky 1992 - - Germline - - - - - DNA SEQ - - PAIS - - sex of rearing ? - - - - - - - - 1 Bruce Gottlieb
?/. 1 c.174_239= CAG[22] r.(?) p.(=) - Bmax low; kD normal Unknown - VUS g.66765162_66765227= g.67545320_67545385= CAG-22 - AR_000000 - Beitel et al. Hum Mol Genet, 3: 21, 1994 - - Germline - - - - - DNA SEQ - - AIS - - sex of rearing F rF - - - - - - - 1 Bruce Gottlieb
?/. 1 c.174_239= CAG[22] r.(?) p.(=) - - Unknown - VUS g.66765162_66765227= g.67545320_67545385= CAG-22 - AR_000000 - Watanabe et al. Jpn J Clin Oncol 27: 389-393, 1997 - - Somatic - - - - - DNA SEQ - - cancer, prostate - - sex of rearing M rM - - - - - - - 1 Bruce Gottlieb
?/. 1 c.174_239= CAG[22] r.(?) p.(=) - - Unknown - VUS g.66765162_66765227= g.67545320_67545385= CAG-22 - AR_000000 - Watanabe et al. Jpn J Clin Oncol 27: 389-393, 1997 - - Somatic - - - - - DNA SEQ - - cancer, prostate - - sex of rearing M; 2 different patients rM - - - - - - - 2 Bruce Gottlieb
?/. 1 c.174_239= CAG[22] r.(?) p.(=) - Bmax normal Unknown - VUS g.66765162_66765227= g.67545320_67545385= CAG-22 - AR_000000 - Wong et al. Mol Cell Endocrinol 292: 69-78, 2008 - - Germline - - - - - DNA SEQ - - PAIS - - sex of rearing M rM - - - - - - - 1 Bruce Gottlieb
-?/. 1 c.1370_1420= GGC[17] r.(?) p.(Gly468_Gly473del) - - Unknown - likely benign g.66766358_66766408= g.67546516_67546566= GGC-17 - AR_000000 - PubMed: Audi 2010 - - Germline - - - - - DNA SEQ - - AIS - - sex of rearing F; sister and 2 aunts affected rF - - - - - - - 4 Bruce Gottlieb
-?/. 1 c.1370_1420= GGC[17] r.(?) p.(Gly468_Gly473del) - - Unknown - likely benign g.66766358_66766408= g.67546516_67546566= GGC-17 - AR_000000 - PubMed: Audi 2010 - - Germline - - - - - DNA SEQ - - PAIS - - sex of rearing F; affected sister and mother, 2 aunts heterozygote carriers rF - - - - - - - 3 Bruce Gottlieb
-?/. 1 c.1370_1420= GGC[17] r.(?) p.(Gly468_Gly473del) - Bmax zero; kD zero Unknown - likely benign g.66766358_66766408= g.67546516_67546566= GGC-17 - AR_000000 - PubMed: Audi 2010 - - Germline - - - - - DNA SEQ - - AIS - - sex of rearing F rF - - - - - - - 1 Bruce Gottlieb
-?/. 1 c.1370_1420= GGC[17] r.(?) p.(Gly468_Gly473del) - - Unknown - likely benign g.66766358_66766408= g.67546516_67546566= GGC-17 - AR_000000 - PubMed: Audi 2010 - - Germline - - - - - DNA SEQ - - AIS - - sex of rearing F rF - - - - - - - 1 Bruce Gottlieb
-?/. 1 c.1370_1420= GGC[17] r.(?) p.(Gly468_Gly473del) - Bmax low; kD low Unknown - likely benign g.66766358_66766408= g.67546516_67546566= GGC-17 - AR_000000 - PubMed: Audi 2010 - - Germline - - - - - DNA SEQ - - AIS - - sex of rearing F; mother and aunt heterozygous carriers, 1 aunt affected rF - - - - - - - 3 Bruce Gottlieb
-?/. 1 c.1370_1420= GGC[17] r.(?) p.(Gly468_Gly473del) - - Unknown - likely benign g.66766358_66766408= g.67546516_67546566= GGC-17 - AR_000000 - PubMed: Audi 2010 - - Germline - - - - - DNA SEQ - - AIS - - sex of rearing F rF - - - - - - - 1 Bruce Gottlieb
-?/. 1 c.1370_1420= GGC[17] r.(?) p.(Gly468_Gly473del) - - Unknown - likely benign g.66766358_66766408= g.67546516_67546566= GGC-17 - AR_000000 - PubMed: Audi 2010 - - Germline - - - - - DNA SEQ - - AIS - - sex of rearing F; mother and 2 sisters heterozygous carriers,1 sister and 1 aunt affected rF - - - - - - - 4 Bruce Gottlieb
-?/. 1 c.1370_1420= GGC[17] r.(?) p.(Gly468_Gly473del) - - Unknown - likely benign g.66766358_66766408= g.67546516_67546566= GGC-17 - AR_000000 - PubMed: Audi 2010 - - Germline - - - - - DNA SEQ - - AIS - - sex of rearing F; mother and cousin hetrozygous, cousin and aunt affected, sister wt rF - - - - - - - 3 Bruce Gottlieb
-?/. 1 c.1370_1420= GGC[17] r.(?) p.(Gly468_Gly473del) - - Unknown - likely benign g.66766358_66766408= g.67546516_67546566= GGC-17 - AR_000000 - PubMed: Audi 2010 - - Germline - - - - - DNA SEQ - - AIS - - sex of rearing F rF - - - - - - - 1 Bruce Gottlieb
-?/. 1 c.1370_1420= GGC[17] r.(?) p.(Gly468_Gly473del) - - Unknown - likely benign g.66766358_66766408= g.67546516_67546566= GGC-17 - AR_000000 - PubMed: Audi 2010 - - Germline - - - - - DNA SEQ - - AIS - - sex of rearing F; heterozygote sister and wt sister rF - - - - - - - 2 Bruce Gottlieb
-?/. 1 c.1370_1420= GGC[17] r.(?) p.(Gly468_Gly473del) - - Unknown - likely benign g.66766358_66766408= g.67546516_67546566= GGC-17 - AR_000000 - PubMed: Audi 2010 - - Germline - - - - - DNA SEQ - - PAIS - - sex of rearing M; mother and grandmother heterozyote carriers rM - - - - - - - 3 Bruce Gottlieb
-?/. 1 c.1370_1420= GGC[17] r.(?) p.(Gly468_Gly473del) - - Unknown - likely benign g.66766358_66766408= g.67546516_67546566= GGC-17 - AR_000000 - PubMed: Audi 2010 - - Germline - - - - - DNA SEQ - - AIS - - sex of rearing F; 1 wt sister rF - - - - - - - 1 Bruce Gottlieb
-?/. 1 c.1370_1420= GGC[17] r.(?) p.(Gly468_Gly473del) - - Unknown - likely benign g.66766358_66766408= g.67546516_67546566= GGC-17 - AR_000000 - PubMed: Audi 2010 - - Germline - - - - - DNA SEQ - - AIS - - sex of rearing F rF - - - - - - - 1 Bruce Gottlieb
-?/. 1 c.1370_1420= GGC[17] r.(?) p.(Gly468_Gly473del) - Bmax low; kD normal Unknown - likely benign g.66766358_66766408= g.67546516_67546566= GGC-17 - AR_000000 - PubMed: Audi 2010 - - Germline - - - - - DNA SEQ - - AIS - - sex of rearing F rF - - - - - - - 1 Bruce Gottlieb
-?/. 1 c.1370_1420= GGC[17] r.(?) p.(Gly468_Gly473del) - - Unknown - likely benign g.66766358_66766408= g.67546516_67546566= GGC-17 - AR_000000 - PubMed: Audi 2010 - - Germline - - - - - DNA SEQ - - AIS - - sex of rearing F rF - - - - - - - 1 Bruce Gottlieb
-?/. 1 c.1370_1420= GGC[17] r.(?) p.(Gly468_Gly473del) - - Unknown - likely benign g.66766358_66766408= g.67546516_67546566= GGC-17 - AR_000000 - PubMed: Audi 2010 - - Germline - - - - - DNA SEQ - - AIS - - sex of rearing F rF - - - - - - - 1 Bruce Gottlieb
-?/. 1 c.1370_1420= GGC[17] r.(?) p.(Gly468_Gly473del) - - Unknown - likely benign g.66766358_66766408= g.67546516_67546566= GGC-17 - AR_000000 - PubMed: Audi 2010 - - Germline - - - - - DNA SEQ - - AIS - - sex of rearing F; heterozygous sister rF - - - - - - - 2 Bruce Gottlieb
-?/. 1 c.1370_1420= GGC[17] r.(?) p.(Gly468_Gly473del) - - Unknown - likely benign g.66766358_66766408= g.67546516_67546566= GGC-17 - AR_000000 - PubMed: Audi 2010 - - Germline - - - - - DNA SEQ - - AIS - - sex of rearing F; 1 sister affected sister rF - - - - - - - 1 Bruce Gottlieb
-?/. 1 c.1370_1420= GGC[17] r.(?) p.(Gly468_Gly473del) - - Unknown - likely benign g.66766358_66766408= g.67546516_67546566= GGC-17 - AR_000000 - PubMed: Audi 2010 - - Germline - - - - - DNA SEQ - - AIS - - sex of rearing F rF - - - - - - - 1 Bruce Gottlieb
-?/. 1 c.1370_1420= GGC[17] r.(?) p.(Gly468_Gly473del) - - Unknown - likely benign g.66766358_66766408= g.67546516_67546566= GGC-17 - AR_000000 - PubMed: Audi 2010 - - Germline - - - - - DNA SEQ - - AIS - - sex of rearing F; mother heterozygous rF - - - - - - - 2 Bruce Gottlieb
-?/. 1 c.1370_1420= GGC[17] r.(?) p.(Gly468_Gly473del) - - Unknown - likely benign g.66766358_66766408= g.67546516_67546566= GGC-17 - AR_000000 - PubMed: Audi 2010 - - Germline - - - - - DNA SEQ - - AIS - - sex of rearing F rF - - - - - - - 1 Bruce Gottlieb
-?/. 1 c.1370_1420= GGC[17] r.(?) p.(Gly468_Gly473del) - Bmax zero; kD zero Unknown - likely benign g.66766358_66766408= g.67546516_67546566= GGC-17 - AR_000000 - PubMed: Audi 2010 - - Germline - - - - - DNA SEQ - - PAIS - - sex of rearing F; mother heterozygous carrier rF - - - - - - - 2 Bruce Gottlieb
-?/. 1 c.1370_1420= GGC[17] r.(?) p.(Gly468_Gly473del) - - Unknown - likely benign g.66766358_66766408= g.67546516_67546566= GGC-17 - AR_000000 - PubMed: Audi 2010 - - Germline - - - - - DNA SEQ - - PAIS - - sex of rearing F; mother heterozygous carrier rF - - - - - - - 2 Bruce Gottlieb
-?/. 1 c.1370_1420= GGC[17] r.(?) p.(Gly468_Gly473del) - - Unknown - likely benign g.66766358_66766408= g.67546516_67546566= GGC-17 - AR_000000 - PubMed: Audi 2010 - - Germline - - - - - DNA SEQ - - AIS - - sex of rearing F rF - - - - - - - 1 Bruce Gottlieb
-?/. 1 c.1370_1420= GGC[17] r.(?) p.(Gly468_Gly473del) - - Unknown - likely benign g.66766358_66766408= g.67546516_67546566= GGC-17 - AR_000000 - PubMed: Audi 2010 - - Germline - - - - - DNA SEQ - - AIS - - sex of rearing F; mother heterozygous carrier rF - - - - - - - 2 Bruce Gottlieb
-?/. 1 c.1370_1420= GGC[17] r.(?) p.(Gly468_Gly473del) - - Unknown - likely benign g.66766358_66766408= g.67546516_67546566= GGC-17 - AR_000000 - PubMed: Audi 2010 - - Germline - - - - - DNA SEQ - - AIS - - sex of rearing F; affected sister, mother heterozygote, 2 aunts wt rF - - - - - - - 2 Bruce Gottlieb
-?/. 1 c.1370_1420= GGC[17] r.(?) p.(Gly468_Gly473del) - Bmax normal Unknown - likely benign g.66766358_66766408= g.67546516_67546566= GGC-17 - AR_000000 - Wong et al. Mol Cell Endocrinol 292: 69-78, 2008 - - Germline - - - - - DNA SEQ - - PAIS - - sex of rearing M rM - - - - - - - 1 Bruce Gottlieb
-?/. 1 c.1370_1420= GGC[17] r.(?) p.(Gly468_Gly473del) - - Unknown - likely benign g.66766358_66766408= g.67546516_67546566= GGC-17 - AR_000000 - Zuccarello et al. Clin Endocrinol 68: 58-588, 2008 - - Germline - - - - - DNA SEQ - - INFM - - sex of rearing M rM - - - - - - - 1 Bruce Gottlieb
-?/. 1 c.1370_1420= GGC[17] r.(?) p.(Gly468_Gly473del) - - Unknown - likely benign g.66766358_66766408= g.67546516_67546566= GGC-17 - AR_000000 - Zuccarello et al. Clin Endocrinol 68: 58-588, 2008 - - Germline - - - - - DNA SEQ - - INFM - - sex of rearing M rM - - - - - - - 1 Bruce Gottlieb
-?/. 1 c.1370_1420= GGC[17] r.(?) p.(Gly468_Gly473del) - - Unknown - likely benign g.66766358_66766408= g.67546516_67546566= GGC-17 - AR_000000 - Zuccarello et al. Clin Endocrinol 68: 58-588, 2008 - - Germline - - - - - DNA SEQ - - INFM - - sex of rearing M rM - - - - - - - 1 Bruce Gottlieb
-?/. 1 c.1370_1420= GGC[17] r.(?) p.(Gly468_Gly473del) - - Unknown - likely benign g.66766358_66766408= g.67546516_67546566= GGC-17 - AR_000000 - Zuccarello et al. Clin Endocrinol 68: 58-588, 2008 - - Germline - - - - - DNA SEQ - - MAIS - - sex of rearing M rM - - - - - - - 1 Bruce Gottlieb
+/. 1 c.(1580_1581)G>A - r.(?) p.(Trp527*) N-term - Unknown - pathogenic g.(66766568_66766569)G>A - - - AR_000000 - Hyytinen et al. Lab Invest. 82: 1591-1598, 2002 - - Somatic - - - - - DNA SEQ - - cancer, prostate - - sex of rearing M rM - - - - - - - 1 Bruce Gottlieb
+/. 2 c.(1630_1660)del[17] - r.? p.? DBD - Parent #1 - pathogenic (recessive) g.(66863111_66863141)[del17] - del 17bp H543fsX544 - AR_000000 - PubMed: Audi 2010 - - Germline - - - - - DNA SEQ - - AIS - - sex of rearing F rF - - - - - - - 1 Bruce Gottlieb
+/. 2i c.(1768+1_1769-1)del - r.spl p.? - Bmax normal; kD high Parent #1 - pathogenic g.(66863250_66905851)del - - - AR_000000 deletion >6 kb intron 2, affects splicing PubMed: Boehmer 2001 - - Germline - - - - - DNA SEQ - - PAIS - - sex of rearing M; relative of 0750 rM - - - - - - - 1 Bruce Gottlieb
+/. 3 c.(1768+1_1886-1)? - r.1769_1885del p.? - - Parent #1 - pathogenic g.(66863250_66931243)? - - - AR_000000 higher express variant in 7/13 breast cancer PubMed: Zhu 1997 - - Somatic - - - - - DNA, RNA RT-PCR, SEQ - - cancer, breast - - sex of rearing F rF - - - - - - - 1 Bruce Gottlieb
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