Full data view for gene AR

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

1543 entries on 16 pages. Showing entries 1 - 100.
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Effect     

Exon     

AscendingDNA change (cDNA)     

Haplotype     

Class.     

RNA change     

Protein     

P-domain     

Enzyme activity     

Allele     

DNA change (genomic) (hg19)     

DNA change (hg38)     

Published as     

ISCN     

DB-ID     

Variant remarks     

Reference     

ClinVar ID     

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     
-?/. 1 c.1370_1420= GGC[17] - r.(?) p.(Gly468_Gly473del) - - Unknown g.66766358_66766408= - GGC-17 - AR_000000 - PubMed: Audi 2010 - - Germline - - - 0 - DNA SEQ - - AIS - - sex of rearing F; sister and 2 aunts affected rF - - - - 0 - - 4 Bruce Gottlieb
-?/. 1 c.1370_1420= GGC[17] - r.(?) p.(Gly468_Gly473del) - - Unknown g.66766358_66766408= - GGC-17 - AR_000000 - 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.1370_1420= GGC[17] - r.(?) p.(Gly468_Gly473del) - Bmax zero; kD zero Unknown g.66766358_66766408= - GGC-17 - AR_000000 - PubMed: Audi 2010 - - Germline - - - 0 - DNA SEQ - - AIS - - sex of rearing F rF - - - - 0 - - 1 Bruce Gottlieb
-?/. 1 c.1370_1420= GGC[17] - r.(?) p.(Gly468_Gly473del) - - Unknown g.66766358_66766408= - GGC-17 - AR_000000 - PubMed: Audi 2010 - - Germline - - - 0 - DNA SEQ - - AIS - - sex of rearing F rF - - - - 0 - - 1 Bruce Gottlieb
-?/. 1 c.1370_1420= GGC[17] - r.(?) p.(Gly468_Gly473del) - Bmax low; kD low Unknown g.66766358_66766408= - GGC-17 - AR_000000 - PubMed: Audi 2010 - - Germline - - - 0 - DNA SEQ - - AIS - - sex of rearing F; mother and aunt heterozygous carriers, 1 aunt affected rF - - - - 0 - - 3 Bruce Gottlieb
-?/. 1 c.1370_1420= GGC[17] - r.(?) p.(Gly468_Gly473del) - - Unknown g.66766358_66766408= - GGC-17 - AR_000000 - PubMed: Audi 2010 - - Germline - - - 0 - DNA SEQ - - AIS - - sex of rearing F rF - - - - 0 - - 1 Bruce Gottlieb
-?/. 1 c.1370_1420= GGC[17] - r.(?) p.(Gly468_Gly473del) - - Unknown g.66766358_66766408= - GGC-17 - AR_000000 - PubMed: Audi 2010 - - Germline - - - 0 - DNA SEQ - - AIS - - sex of rearing F; mother and 2 sisters heterozygous carriers,1 sister and 1 aunt affected rF - - - - 0 - - 4 Bruce Gottlieb
-?/. 1 c.1370_1420= GGC[17] - r.(?) p.(Gly468_Gly473del) - - Unknown g.66766358_66766408= - GGC-17 - AR_000000 - PubMed: Audi 2010 - - Germline - - - 0 - DNA SEQ - - AIS - - sex of rearing F; mother and cousin hetrozygous, cousin and aunt affected, sister wt rF - - - - 0 - - 3 Bruce Gottlieb
-?/. 1 c.1370_1420= GGC[17] - r.(?) p.(Gly468_Gly473del) - - Unknown g.66766358_66766408= - GGC-17 - AR_000000 - PubMed: Audi 2010 - - Germline - - - 0 - DNA SEQ - - AIS - - sex of rearing F rF - - - - 0 - - 1 Bruce Gottlieb
-?/. 1 c.1370_1420= GGC[17] - r.(?) p.(Gly468_Gly473del) - - Unknown g.66766358_66766408= - GGC-17 - AR_000000 - PubMed: Audi 2010 - - Germline - - - 0 - DNA SEQ - - AIS - - sex of rearing F; heterozygote sister and wt sister rF - - - - 0 - - 2 Bruce Gottlieb
-?/. 1 c.1370_1420= GGC[17] - r.(?) p.(Gly468_Gly473del) - - Unknown g.66766358_66766408= - GGC-17 - AR_000000 - PubMed: Audi 2010 - - Germline - - - 0 - DNA SEQ - - PAIS - - sex of rearing M; mother and grandmother heterozyote carriers rM - - - - 0 - - 3 Bruce Gottlieb
-?/. 1 c.1370_1420= GGC[17] - r.(?) p.(Gly468_Gly473del) - - Unknown g.66766358_66766408= - GGC-17 - AR_000000 - PubMed: Audi 2010 - - Germline - - - 0 - DNA SEQ - - AIS - - sex of rearing F; 1 wt sister rF - - - - 0 - - 1 Bruce Gottlieb
-?/. 1 c.1370_1420= GGC[17] - r.(?) p.(Gly468_Gly473del) - - Unknown g.66766358_66766408= - GGC-17 - AR_000000 - PubMed: Audi 2010 - - Germline - - - 0 - DNA SEQ - - AIS - - sex of rearing F rF - - - - 0 - - 1 Bruce Gottlieb
-?/. 1 c.1370_1420= GGC[17] - r.(?) p.(Gly468_Gly473del) - Bmax low; kD normal Unknown g.66766358_66766408= - GGC-17 - AR_000000 - PubMed: Audi 2010 - - Germline - - - 0 - DNA SEQ - - AIS - - sex of rearing F rF - - - - 0 - - 1 Bruce Gottlieb
-?/. 1 c.1370_1420= GGC[17] - r.(?) p.(Gly468_Gly473del) - - Unknown g.66766358_66766408= - GGC-17 - AR_000000 - PubMed: Audi 2010 - - Germline - - - 0 - DNA SEQ - - AIS - - sex of rearing F rF - - - - 0 - - 1 Bruce Gottlieb
-?/. 1 c.1370_1420= GGC[17] - r.(?) p.(Gly468_Gly473del) - - Unknown g.66766358_66766408= - GGC-17 - AR_000000 - PubMed: Audi 2010 - - Germline - - - 0 - DNA SEQ - - AIS - - sex of rearing F rF - - - - 0 - - 1 Bruce Gottlieb
-?/. 1 c.1370_1420= GGC[17] - r.(?) p.(Gly468_Gly473del) - - Unknown g.66766358_66766408= - GGC-17 - AR_000000 - PubMed: Audi 2010 - - Germline - - - 0 - DNA SEQ - - AIS - - sex of rearing F; heterozygous sister rF - - - - 0 - - 2 Bruce Gottlieb
-?/. 1 c.1370_1420= GGC[17] - r.(?) p.(Gly468_Gly473del) - - Unknown g.66766358_66766408= - GGC-17 - AR_000000 - PubMed: Audi 2010 - - Germline - - - 0 - DNA SEQ - - AIS - - sex of rearing F; 1 sister affected sister rF - - - - 0 - - 1 Bruce Gottlieb
-?/. 1 c.1370_1420= GGC[17] - r.(?) p.(Gly468_Gly473del) - - Unknown g.66766358_66766408= - GGC-17 - AR_000000 - PubMed: Audi 2010 - - Germline - - - 0 - DNA SEQ - - AIS - - sex of rearing F rF - - - - 0 - - 1 Bruce Gottlieb
-?/. 1 c.1370_1420= GGC[17] - r.(?) p.(Gly468_Gly473del) - - Unknown g.66766358_66766408= - GGC-17 - AR_000000 - PubMed: Audi 2010 - - Germline - - - 0 - DNA SEQ - - AIS - - sex of rearing F; mother heterozygous rF - - - - 0 - - 2 Bruce Gottlieb
-?/. 1 c.1370_1420= GGC[17] - r.(?) p.(Gly468_Gly473del) - - Unknown g.66766358_66766408= - GGC-17 - AR_000000 - PubMed: Audi 2010 - - Germline - - - 0 - DNA SEQ - - AIS - - sex of rearing F rF - - - - 0 - - 1 Bruce Gottlieb
-?/. 1 c.1370_1420= GGC[17] - r.(?) p.(Gly468_Gly473del) - Bmax zero; kD zero Unknown g.66766358_66766408= - GGC-17 - AR_000000 - PubMed: Audi 2010 - - Germline - - - 0 - DNA SEQ - - PAIS - - sex of rearing F; mother heterozygous carrier rF - - - - 0 - - 2 Bruce Gottlieb
-?/. 1 c.1370_1420= GGC[17] - r.(?) p.(Gly468_Gly473del) - - Unknown g.66766358_66766408= - GGC-17 - AR_000000 - PubMed: Audi 2010 - - Germline - - - 0 - DNA SEQ - - PAIS - - sex of rearing F; mother heterozygous carrier rF - - - - 0 - - 2 Bruce Gottlieb
-?/. 1 c.1370_1420= GGC[17] - r.(?) p.(Gly468_Gly473del) - - Unknown g.66766358_66766408= - GGC-17 - AR_000000 - PubMed: Audi 2010 - - Germline - - - 0 - DNA SEQ - - AIS - - sex of rearing F rF - - - - 0 - - 1 Bruce Gottlieb
-?/. 1 c.1370_1420= GGC[17] - r.(?) p.(Gly468_Gly473del) - - Unknown g.66766358_66766408= - GGC-17 - AR_000000 - PubMed: Audi 2010 - - Germline - - - 0 - DNA SEQ - - AIS - - sex of rearing F; mother heterozygous carrier rF - - - - 0 - - 2 Bruce Gottlieb
-?/. 1 c.1370_1420= GGC[17] - r.(?) p.(Gly468_Gly473del) - - Unknown g.66766358_66766408= - GGC-17 - AR_000000 - PubMed: Audi 2010 - - Germline - - - 0 - DNA SEQ - - AIS - - sex of rearing F; affected sister, mother heterozygote, 2 aunts wt rF - - - - 0 - - 2 Bruce Gottlieb
-?/. 1 c.1370_1420= GGC[17] - r.(?) p.(Gly468_Gly473del) - Bmax normal Unknown g.66766358_66766408= - GGC-17 - AR_000000 - 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.1370_1420= GGC[17] - r.(?) p.(Gly468_Gly473del) - - Unknown g.66766358_66766408= - GGC-17 - AR_000000 - 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.1370_1420= GGC[17] - r.(?) p.(Gly468_Gly473del) - - Unknown g.66766358_66766408= - GGC-17 - AR_000000 - 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.1370_1420= GGC[17] - r.(?) p.(Gly468_Gly473del) - - Unknown g.66766358_66766408= - GGC-17 - AR_000000 - 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.1370_1420= GGC[17] - r.(?) p.(Gly468_Gly473del) - - Unknown g.66766358_66766408= - GGC-17 - AR_000000 - 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.1388_1420dup GGC[28] - r.(?) p.(Gly469_Gly473dup) - Bmax zero Unknown g.66766376_66766408dup - GGC-28 - AR_000613 - PubMed: Holterhus 2005b - - Germline - - - 0 - DNA SEQ - - AIS - - sex of rearing F rF - - - - 0 - - 1 Bruce Gottlieb
-?/. 1 c.1391_1420dup GGC[27] - r.(?) p.(Gly470_Gly473dup) - - Unknown g.66766379_66766408dup - GGC-27 - AR_000611 - PubMed: Gottlieb 1999 - - Germline - - - 0 - DNA SEQ - - AIS - - sex of rearing F rF - - - - 0 - - 1 Bruce Gottlieb
-?/. 1 c.1394_1420dup GGC[26] - r.(?) p.(Gly471_Gly473dup) - Bmax zero Unknown g.66766382_66766408dup - GGC-26 - AR_000610 - PubMed: Gottlieb 1999 - - Germline - - - 0 - DNA SEQ - - AIS - - sex of rearing F rF - - - - 0 - - 1 Bruce Gottlieb
-?/. 1 c.1397_1420dup GGC[25] - r.(?) p.(Gly472_Gly473dup) - Bmax zero Unknown g.66766385_66766408dup - GGC-25 - AR_000609 - PubMed: Gottlieb 1999 - - Germline - - - 0 - DNA SEQ - - AIS - - sex of rearing F rF - - - - 0 - - 1 Bruce Gottlieb
-?/. 1 c.1400_1420dup GGC[24] - r.(?) p.(Gly473dup) - Bmax normal; kD normal; k normal Unknown g.66766388_66766408dup - GGC-24 - AR_000608 - PubMed: Ghadessy 1999 - - Germline - - - 0 - DNA SEQ - - MAIS - - sex of rearing M rM - - - - 0 - - 1 Bruce Gottlieb
-?/. 1 c.1400_1420dup GGC[24] - r.(?) p.(Gly473dup) - Bmax zero Unknown g.66766388_66766408dup - GGC-24 - AR_000608 - PubMed: Gottlieb 1999 - - Germline - - - 0 - DNA SEQ - - AIS - - sex of rearing F rF - - - - 0 - - 1 Bruce Gottlieb
-?/. 1 c.1400_1420dup GGC[24] - r.(?) p.(Gly473dup) - Bmax zero Unknown g.66766388_66766408dup - GGC-24 - AR_000608 - PubMed: Gottlieb 1999 - - Germline - - - 0 - DNA SEQ - - AIS - - sex of rearing F rF - - - - 0 - - 1 Bruce Gottlieb
-?/. 1 c.1400_1420dup GGC[24] - r.(?) p.(Gly473dup) - Bmax zero Unknown g.66766388_66766408dup - GGC-24 - AR_000608 - PubMed: Gottlieb 1999 - - Germline - - - 0 - DNA SEQ - - AIS - - sex of rearing F rF - - - - 0 - - 1 Bruce Gottlieb
-?/. 1 c.1400_1420dup GGC[24] - r.(?) p.(Gly473dup) - Bmax normal; kD high Unknown g.66766388_66766408dup - GGC-24 - AR_000608 - PubMed: Gottlieb 1999 - - Germline - - - 0 - DNA SEQ - - PAIS - - sex of rearing M rM - - - - 0 - - 1 Bruce Gottlieb
-?/. 1 c.1400_1420dup GGC[24] - r.(?) p.(Gly473dup) - Bmax v low Unknown g.66766388_66766408dup - GGC-24 - AR_000608 - PubMed: Gottlieb 1999 - - Germline - - - 0 - DNA SEQ - - AIS - - sex of rearing F rF - - - - 0 - - 1 Bruce Gottlieb
-?/. 1 c.1400_1420dup GGC[24] - r.(?) p.(Gly473dup) - Bmax v low Unknown g.66766388_66766408dup - GGC-24 - AR_000608 - PubMed: Gottlieb 1999 - - Germline - - - 0 - DNA SEQ - - PAIS - - sex of rearing M rM - - - - 0 - - 1 Bruce Gottlieb
-?/. 1 c.1400_1420dup GGC[24] - r.(?) p.(Gly473dup) - Bmax v low; kD normal Unknown g.66766388_66766408dup - GGC-24 - AR_000608 - PubMed: Hellwinkel 2001 - - Germline - - - 0 - DNA SEQ - - PAIS - - sex of rearing M rM - - - - 0 - - 1 Bruce Gottlieb
-?/. 1 c.1400_1420dup GGC[24] - r.(?) p.(Gly473dup) - Bmax normal; kD normal; k normal Unknown g.66766388_66766408dup - GGC-24 - AR_000608 - PubMed: Shkolny 1999 - - Germline - - - 0 - DNA SEQ - - MAIS - - sex of rearing M rM - - - - 0 - - 1 Bruce Gottlieb
-?/. 1 c.1400_1420dup GGC[24] - r.(?) p.(Gly473dup) - Bmax normal; kD high; k high; thermolabile Unknown g.66766388_66766408dup - GGC-24 - AR_000608 - 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.1400_1420dup GGC[24] - r.(?) p.(Gly473dup) - - Unknown g.66766388_66766408dup - GGC-24 - AR_000608 - 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.1403_1420del GGC[11] - r.(?) p.(Gly462_Gly473del) - - Unknown g.66766391_66766408del - GGC-11 - AR_000368 - PubMed: Audi 2010 - - Germline - - - 0 - DNA SEQ - - PAIS - - sex of rearing F; affected niece rF - - - - 0 - - 2 Bruce Gottlieb
-?/. 1 c.1403_1420del GGC[11] - r.(?) p.(Gly462_Gly473del) - - Unknown g.66766391_66766408del - GGC-11 - AR_000368 - PubMed: Audi 2010 - - Germline - - - 0 - DNA SEQ - - PAIS - - sex of rearing M rM - - - - 0 - - 1 Bruce Gottlieb
-?/. 1 c.1406_1420dup GGC[22] - r.(?) p.(Gly473del) - Bmax low; k normal Unknown g.66766394_66766408dup - GGC-22 - AR_000614 - PubMed: Pinsky 1992 - - Germline - - - 0 - DNA SEQ - - PAIS - - sex of rearing ? - - - - - 0 - - 1 Bruce Gottlieb
-?/. 1 c.1406_1420dup GGC[22] - r.(?) p.(Gly473del) - - Unknown g.66766394_66766408dup - GGC-22 - AR_000614 - Thiele et al. J Clin Endocrinol Metab 84: 1751-1753. 1999 - - Germline - - - 0 - DNA SEQ - - AIS - - sex of rearing F rF - - - - 0 - - 1 Bruce Gottlieb
-?/. 1 c.1409_1420del GGC[13] - r.(?) p.(Gly464_Gly473del) - Bmax low; kD high Unknown g.66766397_66766408del - GGC-13 - AR_000604 - PubMed: Audi 2010 - - Germline - - - 0 - DNA SEQ - - AIS - - sex of rearing F; mother heterozygous rF - - - - 0 - - 2 Bruce Gottlieb
-?/. 1 c.1412_1420del GGC[14] - r.(?) p.(Gly465_Gly473del) - - Unknown g.66766400_66766408del - GGC-14 - AR_000605 - PubMed: Audi 2010 - - Germline - - - 0 - DNA SEQ - - PAIS - - sex of rearing M rM - - - - 0 - - 1 Bruce Gottlieb
-?/. 1 c.1412_1420del GGC[14] - r.(?) p.(Gly465_Gly473del) - - Unknown g.66766400_66766408del - GGC-14 - AR_000605 - PubMed: Audi 2010 - - Germline - - - 0 - DNA SEQ - - AIS - - sex of rearing F; affected aunt; mother and 2 aunts heterozygotes rF - - - - 0 - - 5 Bruce Gottlieb
-?/. 1 c.1415_1420del GGC[15] - r.(?) p.(Gly466_Gly473del) - Bmax zero Unknown g.66766403_66766408del - GGC-15 - AR_000612 - PubMed: Gottlieb 1999 - - Germline - - - 0 - DNA SEQ - - AIS - - sex of rearing F rF - - - - 0 - - 1 Bruce Gottlieb
-?/. 1 c.1415_1420dup GGC[19] - r.(?) p.(Gly470_Gly473del) - Bmax normal; kD normal Unknown g.66766403_66766408dup - GGC-19 - AR_000607 - PubMed: Audi 2010 - - Germline - - - 0 - DNA SEQ - - PAIS - - sex of rearing M rM - - - - 0 - - 1 Bruce Gottlieb
-?/. 1 c.1415_1420dup GGC[19] - r.(?) p.(Gly470_Gly473del) - Bmax zero Unknown g.66766403_66766408dup - GGC-19 - AR_000607 - PubMed: Shkolny 1995 - - Germline - - - 0 - DNA SEQ - - AIS - - sex of rearing F rF - - - - 0 - - 1 Bruce Gottlieb
-?/. 1 c.1415_1420dup GGC[19] - r.(?) p.(Gly470_Gly473del) - - Unknown g.66766403_66766408dup - GGC-19 - AR_000607 - 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.1415_1420dup GGC[19] - r.(?) p.(Gly470_Gly473del) - Bmax zero Unknown g.66766403_66766408dup - GGC-19 - AR_000607 - Prior et al. Am J Hum Genet 51: 143, 1992 - - Germline - - - 0 - DNA SEQ - - AIS - - sex of rearing F rF - - - - 0 - - 1 Bruce Gottlieb
-?/. 1 c.1415_1420dup GGC[19] - r.(?) p.(Gly470_Gly473del) - - Unknown g.66766403_66766408dup - GGC-19 - AR_000607 - 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.1418_1420del GGC[16] - r.(?) p.(Gly467_Gly473del) - Bmax normal; kD high Unknown g.66766406_66766408del - GGC-16 - AR_000005 - PubMed: Gottlieb 1999 - - Germline - - - 0 - DNA SEQ - - MAIS - - sex of rearing M rM - - - - 0 - - 1 Bruce Gottlieb
-?/. 1 c.1418_1420del GGC[16] - r.(?) p.(Gly467_Gly473del) - Bmax zero Unknown g.66766406_66766408del - GGC-16 - AR_000005 - PubMed: Shkolny 1995 - - Germline - - - 0 - DNA SEQ - - AIS - - sex of rearing F rF - - - - 0 - - 1 Bruce Gottlieb
-?/. 1 c.1418_1420del GGC[16] - r.(?) p.(Gly467_Gly473del) - Bmax normal; kD high; k normal Unknown g.66766406_66766408del - GGC-16 - 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.1418_1420del GGC[16] - r.(?) p.(Gly467_Gly473del) - Bmax normal; kD high Unknown g.66766406_66766408del - GGC-16 - AR_000005 - Kazemi-Esfarjani et al. Mol Endocrinol, 7: 37-46, 1993 - - Germline - - - 0 - DNA SEQ - - AIS - - sex of rearing F rF - - - - 0 - - 1 Bruce Gottlieb
-?/. 1 c.1418_1420dup GGC[18] - r.(?) p.(Gly469_Gly473del) - - Unknown g.66766406_66766408dup - GGC-18 - AR_000606 - PubMed: Audi 2010 - - Germline - - - 0 - DNA SEQ - - AIS - - sex of rearing F rF - - - - 0 - - 1 Bruce Gottlieb
-?/. 1 c.1418_1420dup GGC[18] - r.(?) p.(Gly469_Gly473del) - Bmax zero; kD zero Unknown g.66766406_66766408dup - GGC-18 - AR_000606 - PubMed: Audi 2010 - - Germline - - - 0 - DNA SEQ - - AIS - - sex of rearing F rF - - - - 0 - - 1 Bruce Gottlieb
-?/. 1 c.1418_1420dup GGC[18] - r.(?) p.(Gly469_Gly473del) - - Unknown g.66766406_66766408dup - GGC-18 - AR_000606 - PubMed: Audi 2010 - - Germline - - - 0 - DNA SEQ - - AIS - - sex of rearing F rF - - - - 0 - - 1 Bruce Gottlieb
-?/. 1 c.1418_1420dup GGC[18] - r.(?) p.(Gly469_Gly473del) - - Unknown g.66766406_66766408dup - GGC-18 - AR_000606 - PubMed: Audi 2010 - - Germline - - - 0 - DNA SEQ - - AIS - - sex of rearing F rF - - - - 0 - - 1 Bruce Gottlieb
-?/. 1 c.1418_1420dup GGC[18] - r.(?) p.(Gly469_Gly473del) - - Unknown g.66766406_66766408dup - GGC-18 - AR_000606 - PubMed: Audi 2010 - - Germline - - - 0 - DNA SEQ - - AIS - - sex of rearing F rF - - - - 0 - - 1 Bruce Gottlieb
-?/. 1 c.1418_1420dup GGC[18] - r.(?) p.(Gly469_Gly473del) - - Unknown g.66766406_66766408dup - GGC-18 - AR_000606 - PubMed: Audi 2010 - - Germline - - - 0 - DNA SEQ - - PAIS - - sex of rearing M; prenatal diagnosis rM - - - - 0 - - 1 Bruce Gottlieb
-?/. 1 c.1418_1420dup GGC[18] - r.(?) p.(Gly469_Gly473del) - Bmax zero; kD zero Unknown g.66766406_66766408dup - GGC-18 - AR_000606 - PubMed: Audi 2010 - - Germline - - - 0 - DNA SEQ - - AIS - - sex of rearing F rF - - - - 0 - - 1 Bruce Gottlieb
-?/. 1 c.1418_1420dup GGC[18] - r.(?) p.(Gly469_Gly473del) - - Unknown g.66766406_66766408dup - GGC-18 - AR_000606 - PubMed: Audi 2010 - - Germline - - - 0 - DNA SEQ - - AIS - - sex of rearing F; affected sister rF - - - - 0 - - 2 Bruce Gottlieb
-?/. 1 c.1418_1420dup GGC[18] - r.(?) p.(Gly469_Gly473del) - - Unknown g.66766406_66766408dup - GGC-18 - AR_000606 - PubMed: Audi 2010 - - Germline - - - 0 - DNA SEQ - - AIS - - sex of rearing F rF - - - - 0 - - 1 Bruce Gottlieb
-?/. 1 c.1418_1420dup GGC[18] - r.(?) p.(Gly469_Gly473del) - - Unknown g.66766406_66766408dup - GGC-18 - AR_000606 - PubMed: Audi 2010 - - Germline - - - 0 - DNA SEQ - - AIS - - sex of rearing F; aborted fetus rF - - - - 0 - - 1 Bruce Gottlieb
-?/. 1 c.1418_1420dup GGC[18] - r.(?) p.(Gly469_Gly473del) - - Unknown g.66766406_66766408dup - GGC-18 - AR_000606 - PubMed: Audi 2010 - - Germline - - - 0 - DNA SEQ - - AIS - - sex of rearing F; mother heterozygous carrier, 1 affected sister rF - - - - 0 - - 2 Bruce Gottlieb
-?/. 1 c.1418_1420dup GGC[18] - r.(?) p.(Gly469_Gly473del) - - Unknown g.66766406_66766408dup - GGC-18 - AR_000606 - PubMed: Audi 2010 - - Germline - - - 0 - DNA SEQ - - AIS - - sex of rearing F rF - - - - 0 - - 1 Bruce Gottlieb
-?/. 1 c.1418_1420dup GGC[18] - r.(?) p.(Gly469_Gly473del) - - Unknown g.66766406_66766408dup - GGC-18 - AR_000606 - PubMed: Audi 2010 - - Germline - - - 0 - DNA SEQ - - AIS - - sex of rearing F; affected sister, heterozygote sister, 2 wt sisters rF - - - - 0 - - 3 Bruce Gottlieb
-?/. 1 c.1418_1420dup GGC[18] - r.(?) p.(Gly469_Gly473del) - - Unknown g.66766406_66766408dup - GGC-18 - AR_000606 - PubMed: Audi 2010 - - Germline - - - 0 - DNA SEQ - - AIS - - sex of rearing F; mother heterozygous rF - - - - 0 - - 2 Bruce Gottlieb
-?/. 1 c.1418_1420dup GGC[18] - r.(?) p.(Gly469_Gly473del) - Bmax low; kD normal Unknown g.66766406_66766408dup - GGC-18 - AR_000606 - PubMed: Audi 2010 - - Germline - - - 0 - DNA SEQ - - AIS - - sex of rearing F; mother and sister heterozygote carriers, 1 aunt wt rF - - - - 0 - - 3 Bruce Gottlieb
-?/. 1 c.1418_1420dup GGC[18] - r.(?) p.(Gly469_Gly473del) - Bmax low; kD normal Unknown g.66766406_66766408dup - GGC-18 - AR_000606 - PubMed: Audi 2010 - - Germline - - - 0 - DNA SEQ - - PAIS - - sex of rearing M; mother heterozygous carrier rM - - - - 0 - - 2 Bruce Gottlieb
-?/. 1 c.1418_1420dup GGC[18] - r.(?) p.(Gly469_Gly473del) - - Unknown g.66766406_66766408dup - GGC-18 - AR_000606 - PubMed: Audi 2010 - - Germline - - - 0 - DNA SEQ - - AIS - - sex of rearing F rF - - - - 0 - - 1 Bruce Gottlieb
-?/. 1 c.1418_1420dup GGC[18] - r.(?) p.(Gly469_Gly473del) - Bmax low; kD high Unknown g.66766406_66766408dup - GGC-18 - AR_000606 - PubMed: Audi 2010 - - Germline - - - 0 - DNA SEQ - - AIS - - sex of rearing F; mother and sister heterozygouu, 2 aunts wt rF - - - - 0 - - 2 Bruce Gottlieb
-?/. 1 c.1418_1420dup GGC[18] - r.(?) p.(Gly469_Gly473del) - Bmax zero; kD zero Unknown g.66766406_66766408dup - GGC-18 - AR_000606 - PubMed: Audi 2010 - - Germline - - - 0 - DNA SEQ - - AIS - - sex of rearing F rF - - - - 0 - - 1 Bruce Gottlieb
-?/. 1 c.1418_1420dup GGC[18] - r.(?) p.(Gly469_Gly473del) - - Unknown g.66766406_66766408dup - GGC-18 - AR_000606 - PubMed: Audi 2010 - - Germline - - - 0 - DNA SEQ - - AIS - - sex of rearing F rF - - - - 0 - - 1 Bruce Gottlieb
-?/. 1 c.1418_1420dup GGC[18] - r.(?) p.(Gly469_Gly473del) - - Unknown g.66766406_66766408dup - GGC-18 - AR_000606 - PubMed: Audi 2010 - - Germline - - - 0 - DNA SEQ - - AIS - - sex of rearing F rF - - - - 0 - - 1 Bruce Gottlieb
-?/. 1 c.1418_1420dup GGC[18] - r.(?) p.(Gly469_Gly473del) - - Unknown g.66766406_66766408dup - GGC-18 - AR_000606 - PubMed: Audi 2010 - - Germline - - - 0 - DNA SEQ - - PAIS - - sex of rearing F rF - - - - 0 - - 1 Bruce Gottlieb
-?/. 1 c.1418_1420dup GGC[18] - r.(?) p.(Gly469_Gly473del) - - Unknown g.66766406_66766408dup - GGC-18 - AR_000606 - PubMed: Audi 2010 - - Germline - - - 0 - DNA SEQ - - AIS - - sex of rearing F; mother heterozygous carrier rF - - - - 0 - - 2 Bruce Gottlieb
-?/. 1 c.1418_1420dup GGC[18] - r.(?) p.(Gly469_Gly473del) - - Unknown g.66766406_66766408dup - GGC-18 - AR_000606 - 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.1418_1420dup GGC[18] - r.(?) p.(Gly469_Gly473del) - - Unknown g.66766406_66766408dup - GGC-18 - AR_000606 - 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.1500T>? - - r.(?) p.(=) N-term - Parent #1 g.? - (Pro500Pro) - AR_000509 - Steinkamp et al. Cancer Res 69: 4434-4442, 2009 - - Somatic - - - 0 - DNA SEQ - - cancer, prostate - - sex of rearing M; >2 cases rM - - - - 0 - - 3 Bruce Gottlieb
+/. 1i_8 c.1617-?_(*436_?)del - - r.(?) p.? - Bmax zero Parent #1 g.? - - - AR_000140 - PubMed: Jakubiczka 1997 - - Germline - - - 0 - DNA SEQ - - AIS - - sex of rearing F; 2 different families rF - - - - 0 - - 2 Bruce Gottlieb
+/. 2i_8 c.1769-?_(*436_?)del - - r.(?) p.? - - Parent #1 g.? - - - AR_000110 - PubMed: Brown 1993 - - Germline - - - 0 - DNA SEQ - - AIS - - sex of rearing F rF - - - - 0 - - 1 Bruce Gottlieb
+/. 3i_8 c.1886-?_(*436_?)del - - r.(?) p.? LBD Bmax zero Parent #1 g.? - - - AR_000409 - Brown et al. Proc Natl Acad Sci 85: 8151, 1988 - - Germline - - - 0 - DNA SEQ - - AIS - - sex of rearing F rF - - - - 0 - - 1 Bruce Gottlieb
+/. 1 c.? - - r.(?) p.(Gly489fs*) N-term Bmax low Parent #1 g.? - - - AR_000000 - PubMed: Ahmed 2000 - - Germline - - - 0 - DNA SEQ - - AIS - - sex of rearing F rF - - - - 0 - - 1 Bruce Gottlieb
+/. 2i c.? - - r.spl? p.? - Bmax zero Parent #1 g.? - - - AR_000000 - PubMed: Ahmed 2000 - - Germline - - - 0 - DNA SEQ - - AIS - - sex of rearing F rF - - - - 0 - - 1 Bruce Gottlieb
+/. 2i c.? - - r.spl? p.? - - Parent #1 g.? - - - AR_000000 - PubMed: Ahmed 2000 - - Germline - - - 0 - DNA SEQ - - AIS - - sex of rearing F rF - - - - 0 - - 1 Bruce Gottlieb
+/. 3 c.? - - r.(?) p.? DBD Bmax zero Parent #1 g.? - - - AR_000000 - PubMed: Ahmed 2000 - - Germline - - - 0 - DNA SEQ - - AIS - - sex of rearing F rF - - - - 0 - - 1 Bruce Gottlieb
+/. 3 c.? - - r.(?) p.? DBD - Parent #1 g.? - - - AR_000000 - PubMed: Ahmed 2000 - - Germline - - - 0 - DNA SEQ - - AIS - - sex of rearing F rF - - - - 0 - - 1 Bruce Gottlieb
+/. 1 c.? - - r.(?) p.(Ser83fs*) N-term Bmax zero; kD zero Parent #1 g.? - - - AR_000000 - PubMed: Audi 2010 - - Germline - - - 0 - DNA SEQ - - AIS - - sex of rearing F rF - - - - 0 - - 1 Bruce Gottlieb
+/. ? c.? - - r.(?) p.? - - Parent #1 g.? - - - AR_000000 - PubMed: Audi 2010 - - Germline - - - 0 - DNA SEQ - - AIS - - - - - - - - 0 - - 1 Lucy Raymond
+/. 2 c.? - - r.(?) p.? - - Parent #1 g.? - - - AR_000000 no immunoreactive AR PubMed: Avila 2002 - - Germline - - - 0 - DNA SEQ - - AIS - - sex of rearing F rF - - - - 0 - - 1 Bruce Gottlieb
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