Unique variants in 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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Effect     

Reported     

Exon     

AscendingDNA change (cDNA)     

ClassClinical     

RNA change     

Protein     

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     

Owner     
+/+ 1 6 c.479T>C - r.479u>c p.Ile160Thr 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 - - - - Anne Polvi
-?/. 1 - c.485G>A likely benign r.(?) p.(Arg162Lys) g.49216155C>T - FSHR:c.485G>A (R162K) - FSHR_000017 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. 1 - c.495C>T likely benign r.(=) p.(=) g.49216145G>A - FSHR:c.495C>T (F165=) - FSHR_000016 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+/+ 1 7 c.566C>T - r.566c>u p.Ala189Val g.49210264G>A g.48983125G>A - - FSHR_000002 1 more item PubMed: Aittomäki et al. 1995, PubMed: Doherty et al. 2002, OMIM:var0001 - rs121909658 SUMMARY record yes - - - - Anne Polvi
+?/+? 1 8 c.662T>G - r.662u>g p.Val221Gly g.49210057A>C g.48982918A>C - - FSHR_000003 1 Japanese ODG1 patient (het) PubMed: Nakamura et al. 2008 - - SUMMARY record - - - - - Anne Polvi
+/+ 1 8i_10i c.668+4941_*147473del - r.? p.? g.49042399_49205110del g.48815260_48977971del Del ex9-10: g.48895903_49058614del (hg18) - FSHR_000012 1 more item PubMed: Kuechler et al. 2010 - - SUMMARY record yes - - - - Anne Polvi
+/+ 1 9 c.671A>T - r.671a>u p.Asp224Val g.49196020T>A g.48968881T>A - - FSHR_000004 1 more item PubMed: Touraine et al. 1999 - - SUMMARY record yes - - - - Anne Polvi
-/. 1 - c.919G>A benign r.(?) p.(Ala307Thr) g.49191041C>T - FSHR:c.919G>A (A307T) - FSHR_000015 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
+/+ 1 10 c.1043C>G - r.1043c>g p.Pro348Arg g.49190917G>C g.48963778G>C - - FSHR_000005 1 more item PubMed: Allen et al. 2003 - - SUMMARY record yes - - - - Anne Polvi
+/+ 1 10 c.1255G>A - r.1255g>a p.Ala419Thr g.49190705C>T g.48963566C>T - - FSHR_000006 1 more item PubMed: Doherty et al. 2002, dbSNP, OMIM:var0007 - rs121909661 SUMMARY record - - - - - Anne Polvi
?/. 1 - c.1412T>G VUS r.(?) p.(Ile471Ser) g.49190548A>C - FSHR:c.1412T>G (I471S) - FSHR_000014 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
+/+ 1 10 c.1555C>A - r.1555c>a p.Pro519Thr g.49190405G>T g.48963266G>T - - FSHR_000007 1 more item PubMed: Meduri et al. 2003, dbSNP, OMIM:var0010 - rs121909662 SUMMARY record - - - - - Anne Polvi
+/+ 1 10 c.1717C>T - r.1717c>u p.Arg573Cys g.49190243G>A g.48963104G>A - - FSHR_000008 1 more item PubMed: Beau et al. 1998, dbSNP, OMIM:var0004 - rs121909660 SUMMARY record yes - - - - Anne Polvi
+?/+? 1 10 c.1724C>T - r.(1724c>u) p.(Ala575Val) g.49190236G>A g.48963097G>A - - FSHR_000009 1 indian ODG1 patient (hom) PubMed: Achrekar et al. 2010 - - SUMMARY record - - - - - Anne Polvi
+/+ 1 10 c.1760C>A - r.1760c>a p.Pro587His 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 - - - - Anne Polvi
+/+ 1 10 c.1801C>G - r.1801c>g p.Leu601Val g.49190159G>C g.48963020G>C - - FSHR_000010 1 more item PubMed: Touraine et al. 1999 - - SUMMARY record yes - - - - Anne Polvi
-/. 1 - c.2039G>A benign r.(?) p.(Ser680Asn) g.49189921C>T - FSHR:c.2039G>A (S680N) - FSHR_000013 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
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