Full data view for gene AR

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

1444 entries on 15 pages. Showing entries 1 - 100.
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Effect     

Domain     

Exon     

AscendingDNA change (cDNA)     

Class.     

RNA change     

Protein     

Enzyme activity     

Allele     

DNA change (genomic) (hg19)     

DNA change (hg38)     

Published as     

ISCN     

DB-ID     

Variant remarks     

Reference     

dbSNP ID     

Germline/Somatic/De novo     

Segregation     

Frequency     

Re-site     

VIP     

Methylation     

Template     

Technique     

Tissue     

Remarks     

Disease     

Individual_ID     

Reference     

Remarks     

Gender     

Consanguinity     

Country     

Population     

Age/Death     

VIP     

Data_av     

Treatment     

Panel size     

Owner     
+/. N-term 1 c.(1580_1581)G>A - r.(?) p.(Trp527*) - Unknown g.? - - - AR_000000 - Hyytinen et al. Lab Invest. 82: 1591-1598, 2002 - Somatic - - - 0 - DNA SEQ - - cancer, prostate - - sex of rearing M rM - - - - 0 - - 1 Bruce Gottlieb
+/. - 1_8 c.(?_-1115)_(*436_?)del - r.0 p.0 Bmax zero Parent #1 g.? - - - AR_000122 - PubMed: Ahmed 2000 - Germline - - - 0 - DNA SEQ - - AIS;CAIS - - sex of rearing F rF - - - - 0 - - 1 Bruce Gottlieb
+/. - 1_8 c.(?_-1115)_(*436_?)del - r.0 p.0 Bmax zero Parent #1 g.? - - - AR_000122 - PubMed: Hiort 1996 - Germline - - - 0 - DNA SEQ - - AIS;CAIS - - sex of rearing F rF - - - - 0 - - 1 Bruce Gottlieb
+/. - 1_8 c.(?_-1115)_(*436_?)del - r.0 p.0 Bmax zero Parent #1 g.? - - - AR_000122 - Quigley et al. J Clin Endocrinol Metab 74: 927-933, 1992 - Germline - - - 0 - DNA SEQ - - AIS;CAIS - - sex of rearing F rF - - - - 0 - - 1 Bruce Gottlieb
+/. - 1_8 c.(?_-1115)_(*436_?)del - r.0 p.0 Bmax zero Parent #1 g.? - - - AR_000122 deletion breakpoints not yet defined Trifiro et al. Mol Cell Endocrinol 75: 37-47, 1991 - Germline - - - 0 - DNA SEQ - - AIS;CAIS - - sex of rearing F rF - - - - 0 - - 1 Bruce Gottlieb
+/. N-term 1i c.(?_-1115)_6161+?del - r.0 p.0 Bmax normal; kD normal Parent #1 g.? - - - AR_000450 CAG8; normal maternal uncle CAG23 Kooy et al. Am J Med Genet 85: 389-393. 1999 - Germline - - - 0 - DNA SEQ - - IDX (MRX) - - sex of rearing M; 3 affected siblings rM - - - - 0 - - 3 Bruce Gottlieb
+/. N-term 1i c.(?_-1115)_6161+?del - r.0 p.0 - Parent #1 g.? - - - AR_000450 expansion of Gln repeat >40 LaSpada et al. Nature 352: 77-79, 1991 - Germline - - - 0 - DNA SEQ - - SMAX-1;SBMA - - sex of rearing M rM - - - - 0 - - 1 Bruce Gottlieb
+/. N-term 1i c.(?_-1115)_6161+?del - r.0 p.0 - Parent #1 g.? - - - AR_000450 contraction of Gln repeat (24 to 18) Schoenberg et al. Biochem Biophys Res Comm 198: 74-80 1994 - Somatic - - - 0 - DNA SEQ - - cancer, prostate - - sex of rearing M rM - - - - 0 - - 1 Bruce Gottlieb
+/. N-term 1i c.(?_-1115)_6161+?del - r.0 p.0 - Parent #1 g.? - - - AR_000450 - Urushibata et al. 10th. Int. Cong. Endocrinol Abstr. P3-706, 1996 - Somatic - - - 0 - DNA SEQ - - ? - - sex of rearing M rM - - - - 0 - - 1 Bruce Gottlieb
+/. N-term 1i c.(?_-1115)_6161+?del - r.0 p.0 - Parent #1 g.? - - - AR_000450 contraction of Gln repeat (20 to 18) Wallin et al. J Pathology 189: 559-653, 1999 - Somatic - - - 0 - DNA SEQ - - cancer, prostate - - sex of rearing M rM - - - - 0 - - 1 Bruce Gottlieb
+/. N-term 1i c.(?_-1115)_6161+?del - r.0 p.0 - Parent #1 g.? - - - AR_000450 - Watanabe et al. Jpn J Clin Oncol 27: 389-393, 1997 - Somatic - - - 0 - DNA SEQ - - cancer, prostate - - sex of rearing M rM - - - - 0 - - 1 Bruce Gottlieb
+/. N-term 1i c.(?_-1115)_6161+?del - r.0 p.0 - Parent #1 g.? - - - AR_000450 - Watanabe et al. Jpn J Clin Oncol 27: 389-393, 1997 - Somatic - - - 0 - DNA SEQ - - cancer, prostate - - sex of rearing M; 2 different patients rM - - - - 0 - - 2 Bruce Gottlieb
-?/. - 1 c.1351GGY[11] - r.(?) p.(Gly462_Gly473del) - Unknown g.? - Gly11 - AR_000368 - PubMed: Audi 2010 - Germline - - - 0 - DNA SEQ - - PAIS - - sex of rearing F; affected niece rF - - - - 0 - - 2 Bruce Gottlieb
-?/. - 1 c.1351GGY[11] - r.(?) p.(Gly462_Gly473del) - Unknown g.? - Gly11 - AR_000368 - PubMed: Audi 2010 - Germline - - - 0 - DNA SEQ - - PAIS - - sex of rearing M rM - - - - 0 - - 1 Bruce Gottlieb
-?/. - 1 c.1351GGY[13] - r.(?) p.(Gly464_Gly473del) Bmax low; kD high Unknown g.? - Gly13 - AR_000005 - PubMed: Audi 2010 - Germline - - - 0 - DNA SEQ - - AIS;CAIS - - sex of rearing F; mother heterozygous rF - - - - 0 - - 2 Bruce Gottlieb
-?/. - 1 c.1351GGY[14] - r.(?) p.(Gly465_Gly473del) - Unknown g.? - Gly14 - AR_000005 - PubMed: Audi 2010 - Germline - - - 0 - DNA SEQ - - PAIS - - sex of rearing M rM - - - - 0 - - 1 Bruce Gottlieb
-?/. - 1 c.1351GGY[14] - r.(?) p.(Gly465_Gly473del) - Unknown g.? - Gly14 - AR_000005 - PubMed: Audi 2010 - Germline - - - 0 - DNA SEQ - - AIS;CAIS - - sex of rearing F; affected aunt; mother and 2 aunts heterozygotes rF - - - - 0 - - 5 Bruce Gottlieb
-?/. - 1 c.1351GGY[15] - r.(?) p.(Gly466_Gly473del) Bmax zero Unknown g.? - Gly15 - AR_000005 - PubMed: Gottlieb 1999 - Germline - - - 0 - DNA SEQ - - AIS;CAIS - - sex of rearing F rF - - - - 0 - - 1 Bruce Gottlieb
-?/. - 1 c.1351GGY[16] - r.(?) p.(Gly467_Gly473del) Bmax normal; kD high Unknown g.? - Gly16 - AR_000005 - PubMed: Gottlieb 1999 - Germline - - - 0 - DNA SEQ - - MAIS - - sex of rearing M rM - - - - 0 - - 1 Bruce Gottlieb
-?/. - 1 c.1351GGY[16] - r.(?) p.(Gly467_Gly473del) Bmax zero Unknown g.? - Gly16 - AR_000005 - PubMed: Shkolny 1995 - Germline - - - 0 - DNA SEQ - - AIS;CAIS - - sex of rearing F rF - - - - 0 - - 1 Bruce Gottlieb
-?/. - 1 c.1351GGY[16] - r.(?) p.(Gly467_Gly473del) Bmax normal; kD high; k normal Unknown g.? - Gly16 - AR_000005 - Beitel et al. J Clin Inv, 94: 546-554 1994 - Germline - - - 0 - DNA SEQ - - PAIS - - sex of rearing M rM - - - - 0 - - 1 Bruce Gottlieb
-?/. - 1 c.1351GGY[16] - r.(?) p.(Gly467_Gly473del) Bmax normal; kD high Unknown g.? - Gly16 - AR_000005 - Kazemi-Esfarjani et al. Mol Endocrinol, 7: 37-46, 1993 - Germline - - - 0 - DNA SEQ - - AIS;CAIS - - sex of rearing F rF - - - - 0 - - 1 Bruce Gottlieb
-?/. - 1 c.1351GGY[17] - r.(?) p.(Gly468_Gly473del) - Unknown g.? - Gly17 - AR_000005 - PubMed: Audi 2010 - Germline - - - 0 - DNA SEQ - - AIS;CAIS - - sex of rearing F; sister and 2 aunts affected rF - - - - 0 - - 4 Bruce Gottlieb
-?/. - 1 c.1351GGY[17] - r.(?) p.(Gly468_Gly473del) - Unknown g.? - Gly17 - AR_000005 - PubMed: Audi 2010 - Germline - - - 0 - DNA SEQ - - PAIS - - sex of rearing F; affected sister and mother, 2 aunts heterozygote carriers rF - - - - 0 - - 3 Bruce Gottlieb
-?/. - 1 c.1351GGY[17] - r.(?) p.(Gly468_Gly473del) Bmax zero; kD zero Unknown g.? - Gly17 - AR_000005 - PubMed: Audi 2010 - Germline - - - 0 - DNA SEQ - - AIS;CAIS - - sex of rearing F rF - - - - 0 - - 1 Bruce Gottlieb
-?/. - 1 c.1351GGY[17] - r.(?) p.(Gly468_Gly473del) - Unknown g.? - Gly17 - AR_000005 - PubMed: Audi 2010 - Germline - - - 0 - DNA SEQ - - AIS;CAIS - - sex of rearing F rF - - - - 0 - - 1 Bruce Gottlieb
-?/. - 1 c.1351GGY[17] - r.(?) p.(Gly468_Gly473del) Bmax low; kD low Unknown g.? - Gly17 - AR_000005 - PubMed: Audi 2010 - Germline - - - 0 - DNA SEQ - - AIS;CAIS - - sex of rearing F; mother and aunt heterozygous carriers, 1 aunt affected rF - - - - 0 - - 3 Bruce Gottlieb
-?/. - 1 c.1351GGY[17] - r.(?) p.(Gly468_Gly473del) - Unknown g.? - Gly17 - AR_000005 - PubMed: Audi 2010 - Germline - - - 0 - DNA SEQ - - AIS;CAIS - - sex of rearing F rF - - - - 0 - - 1 Bruce Gottlieb
-?/. - 1 c.1351GGY[17] - r.(?) p.(Gly468_Gly473del) - Unknown g.? - Gly17 - AR_000005 - PubMed: Audi 2010 - Germline - - - 0 - DNA SEQ - - AIS;CAIS - - sex of rearing F; mother and 2 sisters heterozygous carriers,1 sister and 1 aunt affected rF - - - - 0 - - 4 Bruce Gottlieb
-?/. - 1 c.1351GGY[17] - r.(?) p.(Gly468_Gly473del) - Unknown g.? - Gly17 - AR_000005 - PubMed: Audi 2010 - Germline - - - 0 - DNA SEQ - - AIS;CAIS - - sex of rearing F; mother and cousin hetrozygous, cousin and aunt affected, sister wt rF - - - - 0 - - 3 Bruce Gottlieb
-?/. - 1 c.1351GGY[17] - r.(?) p.(Gly468_Gly473del) - Unknown g.? - Gly17 - AR_000005 - PubMed: Audi 2010 - Germline - - - 0 - DNA SEQ - - AIS;CAIS - - sex of rearing F rF - - - - 0 - - 1 Bruce Gottlieb
-?/. - 1 c.1351GGY[17] - r.(?) p.(Gly468_Gly473del) - Unknown g.? - Gly17 - AR_000005 - PubMed: Audi 2010 - Germline - - - 0 - DNA SEQ - - AIS;CAIS - - sex of rearing F; heterozygote sister and wt sister rF - - - - 0 - - 2 Bruce Gottlieb
-?/. - 1 c.1351GGY[17] - r.(?) p.(Gly468_Gly473del) - Unknown g.? - Gly17 - AR_000005 - PubMed: Audi 2010 - Germline - - - 0 - DNA SEQ - - PAIS - - sex of rearing M; mother and grandmother heterozyote carriers rM - - - - 0 - - 3 Bruce Gottlieb
-?/. - 1 c.1351GGY[17] - r.(?) p.(Gly468_Gly473del) - Unknown g.? - Gly17 - AR_000005 - PubMed: Audi 2010 - Germline - - - 0 - DNA SEQ - - AIS;CAIS - - sex of rearing F; 1 wt sister rF - - - - 0 - - 1 Bruce Gottlieb
-?/. - 1 c.1351GGY[17] - r.(?) p.(Gly468_Gly473del) - Unknown g.? - Gly17 - AR_000005 - PubMed: Audi 2010 - Germline - - - 0 - DNA SEQ - - AIS;CAIS - - sex of rearing F rF - - - - 0 - - 1 Bruce Gottlieb
-?/. - 1 c.1351GGY[17] - r.(?) p.(Gly468_Gly473del) Bmax low; kD normal Unknown g.? - Gly17 - AR_000005 - PubMed: Audi 2010 - Germline - - - 0 - DNA SEQ - - AIS;CAIS - - sex of rearing F rF - - - - 0 - - 1 Bruce Gottlieb
-?/. - 1 c.1351GGY[17] - r.(?) p.(Gly468_Gly473del) - Unknown g.? - Gly17 - AR_000005 - PubMed: Audi 2010 - Germline - - - 0 - DNA SEQ - - AIS;CAIS - - sex of rearing F rF - - - - 0 - - 1 Bruce Gottlieb
-?/. - 1 c.1351GGY[17] - r.(?) p.(Gly468_Gly473del) - Unknown g.? - Gly17 - AR_000005 - PubMed: Audi 2010 - Germline - - - 0 - DNA SEQ - - AIS;CAIS - - sex of rearing F rF - - - - 0 - - 1 Bruce Gottlieb
-?/. - 1 c.1351GGY[17] - r.(?) p.(Gly468_Gly473del) - Unknown g.? - Gly17 - AR_000005 - PubMed: Audi 2010 - Germline - - - 0 - DNA SEQ - - AIS;CAIS - - sex of rearing F; heterozygous sister rF - - - - 0 - - 2 Bruce Gottlieb
-?/. - 1 c.1351GGY[17] - r.(?) p.(Gly468_Gly473del) - Unknown g.? - Gly17 - AR_000005 - PubMed: Audi 2010 - Germline - - - 0 - DNA SEQ - - AIS;CAIS - - sex of rearing F; 1 sister affected sister rF - - - - 0 - - 1 Bruce Gottlieb
-?/. - 1 c.1351GGY[17] - r.(?) p.(Gly468_Gly473del) - Unknown g.? - Gly17 - AR_000005 - PubMed: Audi 2010 - Germline - - - 0 - DNA SEQ - - AIS;CAIS - - sex of rearing F rF - - - - 0 - - 1 Bruce Gottlieb
-?/. - 1 c.1351GGY[17] - r.(?) p.(Gly468_Gly473del) - Unknown g.? - Gly17 - AR_000005 - PubMed: Audi 2010 - Germline - - - 0 - DNA SEQ - - AIS;CAIS - - sex of rearing F; mother heterozygous rF - - - - 0 - - 2 Bruce Gottlieb
-?/. - 1 c.1351GGY[17] - r.(?) p.(Gly468_Gly473del) - Unknown g.? - Gly17 - AR_000005 - PubMed: Audi 2010 - Germline - - - 0 - DNA SEQ - - AIS;CAIS - - sex of rearing F rF - - - - 0 - - 1 Bruce Gottlieb
-?/. - 1 c.1351GGY[17] - r.(?) p.(Gly468_Gly473del) Bmax zero; kD zero Unknown g.? - Gly17 - AR_000005 - PubMed: Audi 2010 - Germline - - - 0 - DNA SEQ - - PAIS - - sex of rearing F; mother heterozygous carrier rF - - - - 0 - - 2 Bruce Gottlieb
-?/. - 1 c.1351GGY[17] - r.(?) p.(Gly468_Gly473del) - Unknown g.? - Gly17 - AR_000005 - PubMed: Audi 2010 - Germline - - - 0 - DNA SEQ - - PAIS - - sex of rearing F; mother heterozygous carrier rF - - - - 0 - - 2 Bruce Gottlieb
-?/. - 1 c.1351GGY[17] - r.(?) p.(Gly468_Gly473del) - Unknown g.? - Gly17 - AR_000005 - PubMed: Audi 2010 - Germline - - - 0 - DNA SEQ - - AIS;CAIS - - sex of rearing F rF - - - - 0 - - 1 Bruce Gottlieb
-?/. - 1 c.1351GGY[17] - r.(?) p.(Gly468_Gly473del) - Unknown g.? - Gly17 - AR_000005 - PubMed: Audi 2010 - Germline - - - 0 - DNA SEQ - - AIS;CAIS - - sex of rearing F; mother heterozygous carrier rF - - - - 0 - - 2 Bruce Gottlieb
-?/. - 1 c.1351GGY[17] - r.(?) p.(Gly468_Gly473del) - Unknown g.? - Gly17 - AR_000005 - PubMed: Audi 2010 - Germline - - - 0 - DNA SEQ - - AIS;CAIS - - sex of rearing F; affected sister, mother heterozygote, 2 aunts wt rF - - - - 0 - - 2 Bruce Gottlieb
-?/. - 1 c.1351GGY[17] - r.(?) p.(Gly468_Gly473del) Bmax normal Unknown g.? - Gly17 - AR_000005 - Wong et al. Mol Cell Endocrinol 292: 69-78, 2008 - Germline - - - 0 - DNA SEQ - - PAIS - - sex of rearing M rM - - - - 0 - - 1 Bruce Gottlieb
-?/. - 1 c.1351GGY[17] - r.(?) p.(Gly468_Gly473del) - Unknown g.? - Gly17 - AR_000005 - Zuccarello et al. Clin Endocrinol 68: 58-588, 2008 - Germline - - - 0 - DNA SEQ - - INFM - - sex of rearing M rM - - - - 0 - - 1 Bruce Gottlieb
-?/. - 1 c.1351GGY[17] - r.(?) p.(Gly468_Gly473del) - Unknown g.? - Gly17 - AR_000005 - Zuccarello et al. Clin Endocrinol 68: 58-588, 2008 - Germline - - - 0 - DNA SEQ - - INFM - - sex of rearing M rM - - - - 0 - - 1 Bruce Gottlieb
-?/. - 1 c.1351GGY[17] - r.(?) p.(Gly468_Gly473del) - Unknown g.? - Gly17 - AR_000005 - Zuccarello et al. Clin Endocrinol 68: 58-588, 2008 - Germline - - - 0 - DNA SEQ - - INFM - - sex of rearing M rM - - - - 0 - - 1 Bruce Gottlieb
-?/. - 1 c.1351GGY[17] - r.(?) p.(Gly468_Gly473del) - Unknown g.? - Gly17 - AR_000005 - Zuccarello et al. Clin Endocrinol 68: 58-588, 2008 - Germline - - - 0 - DNA SEQ - - MAIS - - sex of rearing M rM - - - - 0 - - 1 Bruce Gottlieb
-?/. - 1 c.1351GGY[18] - r.(?) p.(Gly469_Gly473del) - Unknown g.? - Gly18 - AR_000005 - PubMed: Audi 2010 - Germline - - - 0 - DNA SEQ - - AIS;CAIS - - sex of rearing F rF - - - - 0 - - 1 Bruce Gottlieb
-?/. - 1 c.1351GGY[18] - r.(?) p.(Gly469_Gly473del) Bmax zero; kD zero Unknown g.? - Gly18 - AR_000005 - PubMed: Audi 2010 - Germline - - - 0 - DNA SEQ - - AIS;CAIS - - sex of rearing F rF - - - - 0 - - 1 Bruce Gottlieb
-?/. - 1 c.1351GGY[18] - r.(?) p.(Gly469_Gly473del) - Unknown g.? - Gly18 - AR_000005 - PubMed: Audi 2010 - Germline - - - 0 - DNA SEQ - - AIS;CAIS - - sex of rearing F rF - - - - 0 - - 1 Bruce Gottlieb
-?/. - 1 c.1351GGY[18] - r.(?) p.(Gly469_Gly473del) - Unknown g.? - Gly18 - AR_000005 - PubMed: Audi 2010 - Germline - - - 0 - DNA SEQ - - AIS;CAIS - - sex of rearing F rF - - - - 0 - - 1 Bruce Gottlieb
-?/. - 1 c.1351GGY[18] - r.(?) p.(Gly469_Gly473del) - Unknown g.? - Gly18 - AR_000005 - PubMed: Audi 2010 - Germline - - - 0 - DNA SEQ - - AIS;CAIS - - sex of rearing F rF - - - - 0 - - 1 Bruce Gottlieb
-?/. - 1 c.1351GGY[18] - r.(?) p.(Gly469_Gly473del) - Unknown g.? - Gly18 - AR_000005 - PubMed: Audi 2010 - Germline - - - 0 - DNA SEQ - - PAIS - - sex of rearing M; prenatal diagnosis rM - - - - 0 - - 1 Bruce Gottlieb
-?/. - 1 c.1351GGY[18] - r.(?) p.(Gly469_Gly473del) Bmax zero; kD zero Unknown g.? - Gly18 - AR_000005 - PubMed: Audi 2010 - Germline - - - 0 - DNA SEQ - - AIS;CAIS - - sex of rearing F rF - - - - 0 - - 1 Bruce Gottlieb
-?/. - 1 c.1351GGY[18] - r.(?) p.(Gly469_Gly473del) - Unknown g.? - Gly18 - AR_000005 - PubMed: Audi 2010 - Germline - - - 0 - DNA SEQ - - AIS;CAIS - - sex of rearing F; affected sister rF - - - - 0 - - 2 Bruce Gottlieb
-?/. - 1 c.1351GGY[18] - r.(?) p.(Gly469_Gly473del) - Unknown g.? - Gly18 - AR_000005 - PubMed: Audi 2010 - Germline - - - 0 - DNA SEQ - - AIS;CAIS - - sex of rearing F rF - - - - 0 - - 1 Bruce Gottlieb
-?/. - 1 c.1351GGY[18] - r.(?) p.(Gly469_Gly473del) - Unknown g.? - Gly18 - AR_000005 - PubMed: Audi 2010 - Germline - - - 0 - DNA SEQ - - AIS;CAIS - - sex of rearing F; aborted fetus rF - - - - 0 - - 1 Bruce Gottlieb
-?/. - 1 c.1351GGY[18] - r.(?) p.(Gly469_Gly473del) - Unknown g.? - Gly18 - AR_000005 - PubMed: Audi 2010 - Germline - - - 0 - DNA SEQ - - AIS;CAIS - - sex of rearing F; mother heterozygous carrier, 1 affected sister rF - - - - 0 - - 2 Bruce Gottlieb
-?/. - 1 c.1351GGY[18] - r.(?) p.(Gly469_Gly473del) - Unknown g.? - Gly18 - AR_000005 - PubMed: Audi 2010 - Germline - - - 0 - DNA SEQ - - AIS;CAIS - - sex of rearing F rF - - - - 0 - - 1 Bruce Gottlieb
-?/. - 1 c.1351GGY[18] - r.(?) p.(Gly469_Gly473del) - Unknown g.? - Gly18 - AR_000005 - PubMed: Audi 2010 - Germline - - - 0 - DNA SEQ - - AIS;CAIS - - sex of rearing F; affected sister, heterozygote sister, 2 wt sisters rF - - - - 0 - - 3 Bruce Gottlieb
-?/. - 1 c.1351GGY[18] - r.(?) p.(Gly469_Gly473del) - Unknown g.? - Gly18 - AR_000005 - PubMed: Audi 2010 - Germline - - - 0 - DNA SEQ - - AIS;CAIS - - sex of rearing F; mother heterozygous rF - - - - 0 - - 2 Bruce Gottlieb
-?/. - 1 c.1351GGY[18] - r.(?) p.(Gly469_Gly473del) Bmax low; kD normal Unknown g.? - Gly18 - AR_000005 - PubMed: Audi 2010 - Germline - - - 0 - DNA SEQ - - AIS;CAIS - - sex of rearing F; mother and sister heterozygote carriers, 1 aunt wt rF - - - - 0 - - 3 Bruce Gottlieb
-?/. - 1 c.1351GGY[18] - r.(?) p.(Gly469_Gly473del) Bmax low; kD normal Unknown g.? - Gly18 - AR_000005 - PubMed: Audi 2010 - Germline - - - 0 - DNA SEQ - - PAIS - - sex of rearing M; mother heterozygous carrier rM - - - - 0 - - 2 Bruce Gottlieb
-?/. - 1 c.1351GGY[18] - r.(?) p.(Gly469_Gly473del) - Unknown g.? - Gly18 - AR_000005 - PubMed: Audi 2010 - Germline - - - 0 - DNA SEQ - - AIS;CAIS - - sex of rearing F rF - - - - 0 - - 1 Bruce Gottlieb
-?/. - 1 c.1351GGY[18] - r.(?) p.(Gly469_Gly473del) Bmax low; kD high Unknown g.? - Gly18 - AR_000005 - PubMed: Audi 2010 - Germline - - - 0 - DNA SEQ - - AIS;CAIS - - sex of rearing F; mother and sister heterozygouu, 2 aunts wt rF - - - - 0 - - 2 Bruce Gottlieb
-?/. - 1 c.1351GGY[18] - r.(?) p.(Gly469_Gly473del) Bmax zero; kD zero Unknown g.? - Gly18 - AR_000005 - PubMed: Audi 2010 - Germline - - - 0 - DNA SEQ - - AIS;CAIS - - sex of rearing F rF - - - - 0 - - 1 Bruce Gottlieb
-?/. - 1 c.1351GGY[18] - r.(?) p.(Gly469_Gly473del) - Unknown g.? - Gly18 - AR_000005 - PubMed: Audi 2010 - Germline - - - 0 - DNA SEQ - - AIS;CAIS - - sex of rearing F rF - - - - 0 - - 1 Bruce Gottlieb
-?/. - 1 c.1351GGY[18] - r.(?) p.(Gly469_Gly473del) - Unknown g.? - Gly18 - AR_000005 - PubMed: Audi 2010 - Germline - - - 0 - DNA SEQ - - AIS;CAIS - - sex of rearing F rF - - - - 0 - - 1 Bruce Gottlieb
-?/. - 1 c.1351GGY[18] - r.(?) p.(Gly469_Gly473del) - Unknown g.? - Gly18 - AR_000005 - PubMed: Audi 2010 - Germline - - - 0 - DNA SEQ - - PAIS - - sex of rearing F rF - - - - 0 - - 1 Bruce Gottlieb
-?/. - 1 c.1351GGY[18] - r.(?) p.(Gly469_Gly473del) - Unknown g.? - Gly18 - AR_000005 - PubMed: Audi 2010 - Germline - - - 0 - DNA SEQ - - AIS;CAIS - - sex of rearing F; mother heterozygous carrier rF - - - - 0 - - 2 Bruce Gottlieb
-?/. - 1 c.1351GGY[18] - r.(?) p.(Gly469_Gly473del) - Unknown g.? - Gly18 - AR_000005 - Zuccarello et al. Clin Endocrinol 68: 58-588, 2008 - Germline - - - 0 - DNA SEQ - - INFM - - sex of rearing M rM - - - - 0 - - 1 Bruce Gottlieb
-?/. - 1 c.1351GGY[18] - r.(?) p.(Gly469_Gly473del) - Unknown g.? - Gly18 - AR_000005 - Zuccarello et al. Clin Endocrinol 68: 58-588, 2008 - Germline - - - 0 - DNA SEQ - - MAIS - - sex of rearing M rM - - - - 0 - - 1 Bruce Gottlieb
-?/. - 1 c.1351GGY[19] - r.(?) p.(Gly470_Gly473del) Bmax normal; kD normal Unknown g.? - Gly19 - AR_000005 - PubMed: Audi 2010 - Germline - - - 0 - DNA SEQ - - PAIS - - sex of rearing M rM - - - - 0 - - 1 Bruce Gottlieb
-?/. - 1 c.1351GGY[19] - r.(?) p.(Gly470_Gly473del) Bmax zero Unknown g.? - Gly19 - AR_000005 - PubMed: Shkolny 1995 - Germline - - - 0 - DNA SEQ - - AIS;CAIS - - sex of rearing F rF - - - - 0 - - 1 Bruce Gottlieb
-?/. - 1 c.1351GGY[19] - r.(?) p.(Gly470_Gly473del) - Unknown g.? - Gly19 - AR_000005 - Chelnski et al. The Prostate 47: 66-75, 2001 - Somatic - - - 0 - DNA SEQ - - cancer, prostate - - sex of rearing M rM - - - - 0 - - 1 Bruce Gottlieb
-?/. - 1 c.1351GGY[19] - r.(?) p.(Gly470_Gly473del) Bmax zero Unknown g.? - Gly19 - AR_000005 - Prior et al. Am J Hum Genet 51: 143, 1992 - Germline - - - 0 - DNA SEQ - - AIS;CAIS - - sex of rearing F rF - - - - 0 - - 1 Bruce Gottlieb
-?/. - 1 c.1351GGY[19] - r.(?) p.(Gly470_Gly473del) - Unknown g.? - Gly19 - AR_000005 - Zuccarello et al. Clin Endocrinol 68: 58-588, 2008 - Germline - - - 0 - DNA SEQ - - PAIS - - sex of rearing M rM - - - - 0 - - 1 Bruce Gottlieb
-?/. - 1 c.1351GGY[22] - r.(?) p.(Gly473del) Bmax low; k normal Unknown g.? - Gly22 - AR_000005 - PubMed: Pinsky 1992 - Germline - - - 0 - DNA SEQ - - PAIS - - sex of rearing ? - - - - - 0 - - 1 Bruce Gottlieb
-?/. - 1 c.1351GGY[22] - r.(?) p.(Gly473del) - Unknown g.? - Gly22 - AR_000005 - Thiele et al. J Clin Endocrinol Metab 84: 1751-1753. 1999 - Germline - - - 0 - DNA SEQ - - AIS;CAIS - - sex of rearing F rF - - - - 0 - - 1 Bruce Gottlieb
-?/. - 1 c.1351GGY[24] - r.(?) p.(Gly473dup) Bmax normal; kD normal; k normal Unknown g.? - Gly24 - AR_000005 - PubMed: Ghadessy 1999 - Germline - - - 0 - DNA SEQ - - MAIS - - sex of rearing M rM - - - - 0 - - 1 Bruce Gottlieb
-?/. - 1 c.1351GGY[24] - r.(?) p.(Gly473dup) Bmax zero Unknown g.? - Gly24 - AR_000005 - PubMed: Gottlieb 1999 - Germline - - - 0 - DNA SEQ - - AIS;CAIS - - sex of rearing F rF - - - - 0 - - 1 Bruce Gottlieb
-?/. - 1 c.1351GGY[24] - r.(?) p.(Gly473dup) Bmax zero Unknown g.? - Gly24 - AR_000005 - PubMed: Gottlieb 1999 - Germline - - - 0 - DNA SEQ - - AIS;CAIS - - sex of rearing F rF - - - - 0 - - 1 Bruce Gottlieb
-?/. - 1 c.1351GGY[24] - r.(?) p.(Gly473dup) Bmax zero Unknown g.? - Gly24 - AR_000005 - PubMed: Gottlieb 1999 - Germline - - - 0 - DNA SEQ - - AIS;CAIS - - sex of rearing F rF - - - - 0 - - 1 Bruce Gottlieb
-?/. - 1 c.1351GGY[24] - r.(?) p.(Gly473dup) Bmax normal; kD high Unknown g.? - Gly24 - AR_000005 - PubMed: Gottlieb 1999 - Germline - - - 0 - DNA SEQ - - PAIS - - sex of rearing M rM - - - - 0 - - 1 Bruce Gottlieb
-?/. - 1 c.1351GGY[24] - r.(?) p.(Gly473dup) Bmax v low Unknown g.? - Gly24 - AR_000005 - PubMed: Gottlieb 1999 - Germline - - - 0 - DNA SEQ - - AIS;CAIS - - sex of rearing F rF - - - - 0 - - 1 Bruce Gottlieb
-?/. - 1 c.1351GGY[24] - r.(?) p.(Gly473dup) Bmax v low Unknown g.? - Gly24 - AR_000005 - PubMed: Gottlieb 1999 - Germline - - - 0 - DNA SEQ - - PAIS - - sex of rearing M rM - - - - 0 - - 1 Bruce Gottlieb
-?/. - 1 c.1351GGY[24] - r.(?) p.(Gly473dup) Bmax v low; kD normal Unknown g.? - Gly24 - AR_000005 - PubMed: Hellwinkel 2001 - Germline - - - 0 - DNA SEQ - - PAIS - - sex of rearing M rM - - - - 0 - - 1 Bruce Gottlieb
-?/. - 1 c.1351GGY[24] - r.(?) p.(Gly473dup) Bmax normal; kD normal; k normal Unknown g.? - Gly24 - AR_000005 - PubMed: Shkolny 1999 - Germline - - - 0 - DNA SEQ - - MAIS - - sex of rearing M rM - - - - 0 - - 1 Bruce Gottlieb
-?/. - 1 c.1351GGY[24] - r.(?) p.(Gly473dup) Bmax normal; kD high; k high; thermolabile Unknown g.? - Gly24 - AR_000005 - Beitel et al. J Clin Inv, 94: 546-554 1994 - Germline - - - 0 - DNA SEQ - - PAIS - - sex of rearing F rF - - - - 0 - - 1 Bruce Gottlieb
-?/. - 1 c.1351GGY[24] - r.(?) p.(Gly473dup) - Unknown g.? - Gly24 - AR_000005 - Yeh et al. Int J Cancer 120: 1610-1617, 2007 - Somatic - - - 0 - DNA SEQ - - ? - - sex of rearing M rM - - - - 0 - - 1 Bruce Gottlieb
-?/. - 1 c.1351GGY[25] - r.(?) p.(Gly472_Gly473dup) Bmax zero Unknown g.? - Gly25 - AR_000005 - PubMed: Gottlieb 1999 - Germline - - - 0 - DNA SEQ - - AIS;CAIS - - sex of rearing F rF - - - - 0 - - 1 Bruce Gottlieb
-?/. - 1 c.1351GGY[26] - r.(?) p.(Gly471_Gly473dup) Bmax zero Unknown g.? - Gly26 - AR_000005 - PubMed: Gottlieb 1999 - Germline - - - 0 - DNA SEQ - - AIS;CAIS - - sex of rearing F rF - - - - 0 - - 1 Bruce Gottlieb
-?/. - 1 c.1351GGY[27] - r.(?) p.(Gly470_Gly473dup) - Unknown g.? - Gly27 - AR_000005 - PubMed: Gottlieb 1999 - Germline - - - 0 - DNA SEQ - - AIS;CAIS - - sex of rearing F rF - - - - 0 - - 1 Bruce Gottlieb
-?/. - 1 c.1351GGY[28] - r.(?) p.(Gly469_Gly473dup) Bmax zero Unknown g.? - Gly28 - AR_000005 - PubMed: Holterhus 2005b - Germline - - - 0 - DNA SEQ - - AIS;CAIS - - sex of rearing F rF - - - - 0 - - 1 Bruce Gottlieb
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