All transcript variants in gene FSHR

Information The variants shown are described using the NM_000145.3 transcript reference sequence.

12 entries on 1 page. Showing entries 1 - 12.
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Effect     

Exon     

AscendingDNA change (cDNA)     

Class.     

RNA change     

Protein     

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     

Owner     
+/+ 6 c.479T>C - r.479u>c p.Ile160Thr g.49216161A>G - - - FSHR_000001 1 Armenian ODG1 family (com-het); Mutation causes impaired cell surface expression of FSHR PubMed: Beau et al. 1998, OMIM:var0003 rs121909659 SUMMARY record yes - - - - Anne Polvi
+/+ 7 c.566C>T - r.566c>u p.Ala189Val g.49210264G>A - - - FSHR_000002 37 Finnish ODG1 patients (hom) in 6 ODG1 families and 1 Finnish ODG1 patient (com-het); Expression of the gene in transfected cells demonstrated a dramatic reduction of binding capacity and signal transduction of the mutated receptor PubMed: Aittomäki et al. 1995, PubMed: Doherty et al. 2002, OMIM:var0001 rs121909658 SUMMARY record yes - - - - Anne Polvi
+?/+? 8 c.662T>G - r.662u>g p.Val221Gly g.49210057A>C - - - FSHR_000003 1 Japanese ODG1 patient (het) PubMed: Nakamura et al. 2008 - SUMMARY record - - - - - Anne Polvi
+/+ 8i_10i c.668+4941_*147473del - r.? p.? g.49042399_49205110del - Del ex9-10: g.48895903_49058614del (hg18) - FSHR_000012 1 ODG1 patient (com-het); Deletion of exons 9 and 10 should lead to a complete loss-of-function, if the mRNA is translated at all PubMed: Kuechler et al. 2010 - SUMMARY record yes - - 0 - Anne Polvi
+/+ 9 c.671A>T - r.671a>u p.Asp224Val g.49196020T>A - - - FSHR_000004 1 Caucasian ODG1 family (com-het); Transfected cells: Mutation causes impaired targeting of FSHR to the cell membrane PubMed: Touraine et al. 1999 - SUMMARY record yes - - - - Anne Polvi
+/+ 10 c.1043C>G - r.1043c>g p.Pro348Arg g.49190917G>C - - - FSHR_000005 1 ODG1 patient (hemizygous, population not mentioned); Functional studies: Mutant FSHR is completely inactive and does not bind FSH PubMed: Allen et al. 2003 - SUMMARY record yes - - - - Anne Polvi
+/+ 10 c.1255G>A - r.1255g>a p.Ala419Thr g.49190705C>T - - - FSHR_000006 1 Finnish ODG1 patient (com-het); Functional studies: mutation almost totally abolished the cAMP second messenger response PubMed: Doherty et al. 2002, dbSNP, OMIM:var0007 rs121909661 SUMMARY record - - - - - Anne Polvi
+/+ 10 c.1555C>A - r.1555c>a p.Pro519Thr g.49190405G>T - - - FSHR_000007 1 Caucasian ODG1 patient (hom); Functional studies: mutation totally impairs adenylate cyclase stimulation in vitro PubMed: Meduri et al. 2003, dbSNP, OMIM:var0010 rs121909662 SUMMARY record - - - - - Anne Polvi
+/+ 10 c.1717C>T - r.1717c>u p.Arg573Cys g.49190243G>A - - - FSHR_000008 1 Armenian ODG1 family (com-het); Mutation expressed in COS-7 cells: alters signal transduction of the receptor PubMed: Beau et al. 1998, dbSNP, OMIM:var0004 rs121909660 SUMMARY record yes - - - - Anne Polvi
+?/+? 10 c.1724C>T - r.(1724c>u) p.(Ala575Val) g.49190236G>A - - - FSHR_000009 1 indian ODG1 patient (hom) PubMed: Achrekar et al. 2010 - SUMMARY record - - - - - Anne Polvi
+/+ 10 c.1760C>A - r.1760c>a p.Pro587His g.49190200G>T - - - FSHR_000011 1 ODG1 patient (com-het); Functional studies: Complete lack of signal transduction PubMed: Kuechler et al. 2010, OMIM:var0014 - SUMMARY record yes - - - - Anne Polvi
+/+ 10 c.1801C>G - r.1801c>g p.Leu601Val g.49190159G>C - - - FSHR_000010 1 Caucasian ODG1 family (com-het); Transfected cells: Mutation causes an impairment in signal transduction PubMed: Touraine et al. 1999 - SUMMARY record yes - - - - Anne Polvi
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