Full data view for gene FSHR

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

17 entries on 1 page. Showing entries 1 - 17.
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AscendingDNA change (cDNA)     

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+/+ 6 c.479T>C - r.479u>c p.Ile160Thr Maternal (confirmed) g.49216161A>G g.48989022A>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 - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.485G>A likely benign r.(?) p.(Arg162Lys) Unknown g.49216155C>T - FSHR:c.485G>A (R162K) - FSHR_000017 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.495C>T likely benign r.(=) p.(=) Unknown g.49216145G>A - FSHR:c.495C>T (F165=) - FSHR_000016 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
+/+ 7 c.566C>T - r.566c>u p.Ala189Val Both (homozygous) g.49210264G>A g.48983125G>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 - - - - - - - - - - - - - - - - - - - - - -
+?/+? 8 c.662T>G - r.662u>g p.Val221Gly Unknown g.49210057A>C g.48982918A>C - - FSHR_000003 1 Japanese ODG1 patient (het) PubMed: Nakamura et al. 2008 - - SUMMARY record - - - - - - - - - - - - - - - - - - - - - - -
+/+ 8i_10i c.668+4941_*147473del - r.? p.? Maternal (confirmed) g.49042399_49205110del g.48815260_48977971del 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 - - - - - - - - - - - - - - - - - - -
+/+ 9 c.671A>T - r.671a>u p.Asp224Val Paternal (confirmed) g.49196020T>A g.48968881T>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 - - - - - - - - - - - - - - - - - - - - - -
-/. - c.919G>A benign r.(?) p.(Ala307Thr) Unknown g.49191041C>T - FSHR:c.919G>A (A307T) - FSHR_000015 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
+/+ 10 c.1043C>G - r.1043c>g p.Pro348Arg Unknown g.49190917G>C g.48963778G>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 - - - - - - - - - - - - - - - - - - - - - -
+/+ 10 c.1255G>A - r.1255g>a p.Ala419Thr Unknown g.49190705C>T g.48963566C>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 - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1412T>G VUS r.(?) p.(Ile471Ser) Unknown g.49190548A>C - FSHR:c.1412T>G (I471S) - FSHR_000014 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
+/+ 10 c.1555C>A - r.1555c>a p.Pro519Thr Unknown g.49190405G>T g.48963266G>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 - - - - - - - - - - - - - - - - - - - - - - -
+/+ 10 c.1717C>T - r.1717c>u p.Arg573Cys Paternal (confirmed) g.49190243G>A g.48963104G>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 - - - - - - - - - - - - - - - - - - - - - -
+?/+? 10 c.1724C>T - r.(1724c>u) p.(Ala575Val) Unknown g.49190236G>A g.48963097G>A - - FSHR_000009 1 indian ODG1 patient (hom) PubMed: Achrekar et al. 2010 - - SUMMARY record - - - - - - - - - - - - - - - - - - - - - - -
+/+ 10 c.1760C>A - r.1760c>a p.Pro587His Paternal (confirmed) g.49190200G>T g.48963061G>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 - - - - - - - - - - - - - - - - - - - - - -
+/+ 10 c.1801C>G - r.1801c>g p.Leu601Val Maternal (confirmed) g.49190159G>C g.48963020G>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 - - - - - - - - - - - - - - - - - - - - - -
-/. - c.2039G>A benign r.(?) p.(Ser680Asn) Unknown g.49189921C>T - FSHR:c.2039G>A (S680N) - FSHR_000013 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
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