Full data view for gene FSHR

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

51 entries on 1 page. Showing entries 1 - 51.
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Effect     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     

Allele     

Classification method     

Clinical classification     

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     

Template     

Technique     

Tissue     

Remarks     

Disease     

ID_report     

Reference     

Remarks     

Gender     

Consanguinity     

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Age at death     

VIP     

Data_av     

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Owner     
?/. - c.-12699625_*21589464dup r.0? p.0? Unknown - VUS g.27600408_62081181dup - chr2:27600408–62081181 - FSHR_000025 - PubMed: Ellingsford 2018 - - Germline - - - - - - - - - - - - - - - - - - - - - - -
-?/. 10_ - r.(=) p.(=) Both (homozygous) - likely benign g.49189199G>A - (c.*673C>T) - FSHR_000028 - PubMed: Allen 2003 - - Germline - - - - - DNA SEQ - - ? patient PubMed: Allen 2003 - F no United Kingdom (Great Britain) - - - - - 1 Johan den Dunnen
+/+ _8i_10_ c.(525-1608_668+4941)_*576{0} r.? p.? Maternal (confirmed) - pathogenic g.49042399_49205110del g.48815260_48977971del del (rs6729545_rs9636432)_(rs2268359_rs13396575)del 46,XX,t(2;8)(p16.3or21;p23.1) FSHR_000012 deletion 162.7 kb (30 SNPs); variant inherited from unaffected mother PubMed: Kuechler 2010 - - Germline - - - - - DNA FISH, microscope, SEQ - - ? patient PubMed: Kuechler 2010 2-generation family, 1 affected, unaffected heterozygous carrier parents F - Germany - - - - - 1 Johan den Dunnen
?/. - c.259G>A r.(?) p.(Glu87Lys) Unknown - VUS g.49247265C>T - - - FSHR_000030 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.337C>T r.(?) p.(Pro113Ser) Unknown - likely benign g.49244665G>A - FSHR(NM_000145.3):c.337C>T (p.(Pro113Ser)) - FSHR_000031 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/+ 6 c.479T>C r.(479u>c) p.(Ile160Thr) Maternal (confirmed) - pathogenic (recessive) g.49216161A>G g.48989022A>G - - FSHR_000001 in vitro functional analysis shows impaired cell surface expression of FSHR PubMed: Beau 1998, OMIM:var0003 - rs121909659 Germline yes - - - - DNA SEQ - - ? patient PubMed: Beau 1998 - F no Armenia - - - - - 1 Johan den Dunnen
-?/. - c.485G>A r.(?) p.(Arg162Lys) Unknown - likely benign g.49216155C>T g.48989016C>T FSHR(NM_000145.3):c.485G>A (p.R162K) - FSHR_000017 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.495C>T r.(?) p.(Phe165=) Unknown - likely benign g.49216145G>A g.48989006G>A FSHR(NM_000145.3):c.495C>T (p.F165=) - FSHR_000016 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/+ 7 c.566C>T r.(566c>u) p.(Ala189Val) Both (homozygous) - pathogenic (recessive) g.49210264G>A g.48983125G>A - - FSHR_000002 in vitro functional analysis shows dramatic reduction of binding capacity and signal transduction of the variant receptor PubMed: Aittomaki 1995, OMIM:var0001 - rs121909658 SUMMARY record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.566C>T r.(566c>u) p.(Ala189Val) Parent #2 - pathogenic (recessive) g.49210264G>A g.48983125G>A - - FSHR_000002 - PubMed: Doherty 2002 - - Germline - - - - - DNA SEQ - - POF patient PubMed: Doherty 2002 - F no Australia Finland - - - - 1 Johan den Dunnen
+/. 7 c.566C>T r.566c>u p.Ala189Val Both (homozygous) - pathogenic (recessive) g.49210264G>A g.48983125G>A - - FSHR_000002 - PubMed: Aittomaki 1995 - - Germline - - - - - DNA, RNA RT-PCR, SEQ - - ODG1 Fam1Pat17 PubMed: Aittomaki 1995 2-generation family, 2 affected sisters, unaffected heterozygous carrier parents/relatives - yes Finland - - - - - 2 Johan den Dunnen
+/. 7 c.566C>T r.566c>u p.Ala189Val Both (homozygous) - pathogenic (recessive) g.49210264G>A g.48983125G>A - - FSHR_000002 - PubMed: Aittomaki 1995 - - Germline - - - - - DNA, RNA RT-PCR, SEQ - - ODG1 Fam1Pat18 PubMed: Aittomaki 1995 sister - yes Finland - - - - - 1 Johan den Dunnen
+/. 7 c.566C>T r.(566c>u) p.(Ala189Val) Both (homozygous) - pathogenic (recessive) g.49210264G>A g.48983125G>A - - FSHR_000002 - PubMed: Aittomaki 1995 - - Germline - - - - - DNA SEQ - - ODG1 Fam2Pat29 PubMed: Aittomaki 1995 2-generation family, 2 affected sisters, unaffected heterozygous carrier parents/relatives - yes Finland - - - - - 2 Johan den Dunnen
+/. 7 c.566C>T r.(566c>u) p.(Ala189Val) Both (homozygous) - pathogenic (recessive) g.49210264G>A g.48983125G>A - - FSHR_000002 - PubMed: Aittomaki 1995 - - Germline - - - - - DNA SEQ - - ODG1 Fam2Pat210 PubMed: Aittomaki 1995 sister - yes Finland - - - - - 1 Johan den Dunnen
+/. 7 c.566C>T r.(566c>u) p.(Ala189Val) Both (homozygous) - pathogenic (recessive) g.49210264G>A g.48983125G>A - - FSHR_000002 - PubMed: Aittomaki 1995 - - Germline - - - - - DNA SEQ - - ODG1 Fam4PatII1 PubMed: Aittomaki 1995 2-generation family, 3 affected sisters, unaffected heterozygous carrier parents/relatives - - Finland - - - - - 3 Johan den Dunnen
+/. 7 c.566C>T r.(566c>u) p.(Ala189Val) Both (homozygous) - pathogenic (recessive) g.49210264G>A g.48983125G>A - - FSHR_000002 - PubMed: Aittomaki 1995 - - Germline - - - - - DNA SEQ - - ODG1 Fam4PatII2 PubMed: Aittomaki 1995 sister - - Finland - - - - - 1 Johan den Dunnen
+/. 7 c.566C>T r.(566c>u) p.(Ala189Val) Both (homozygous) - pathogenic (recessive) g.49210264G>A g.48983125G>A - - FSHR_000002 - PubMed: Aittomaki 1995 - - Germline - - - - - DNA SEQ - - ODG1 Fam4PatII6 PubMed: Aittomaki 1995 sister - - Finland - - - - - 1 Johan den Dunnen
+/. 7 c.566C>T r.(566c>u) p.(Ala189Val) Both (homozygous) - pathogenic (recessive) g.49210264G>A g.48983125G>A - - FSHR_000002 - PubMed: Aittomaki 1995 - - Germline - - - - - DNA SEQ - - ODG1 Fam5PatII2 PubMed: Aittomaki 1995 2-generation family, 2 affected sisters, unaffected heterozygous carrier parents/relatives - - Finland - - - - - 2 Johan den Dunnen
+/. 7 c.566C>T r.(566c>u) p.(Ala189Val) Both (homozygous) - pathogenic (recessive) g.49210264G>A g.48983125G>A - - FSHR_000002 - PubMed: Aittomaki 1995 - - Germline - - - - - DNA SEQ - - ODG1 Fam5PatII3 PubMed: Aittomaki 1995 sister - - Finland - - - - - 1 Johan den Dunnen
+/. 7 c.566C>T r.(566c>u) p.(Ala189Val) Both (homozygous) - pathogenic (recessive) g.49210264G>A g.48983125G>A - - FSHR_000002 - PubMed: Aittomaki 1995 - - Germline - - - - - DNA SEQ - - ODG1 Fam6Pat65 PubMed: Aittomaki 1995 2-generation family, 4 affected sisters, unaffected heterozygous carrier parents/relatives - - Finland - - - - - 4 Johan den Dunnen
+/. 7 c.566C>T r.(566c>u) p.(Ala189Val) Both (homozygous) - pathogenic (recessive) g.49210264G>A g.48983125G>A - - FSHR_000002 - PubMed: Aittomaki 1995 - - Germline - - - - - DNA SEQ - - ODG1 Fam6Pat67 PubMed: Aittomaki 1995 sister - - Finland - - - - - 1 Johan den Dunnen
+/. 7 c.566C>T r.(566c>u) p.(Ala189Val) Both (homozygous) - pathogenic (recessive) g.49210264G>A g.48983125G>A - - FSHR_000002 - PubMed: Aittomaki 1995 - - Germline - - - - - DNA SEQ - - ODG1 Fam6Pat68 PubMed: Aittomaki 1995 sister - - Finland - - - - - 1 Johan den Dunnen
+/. 7 c.566C>T r.(566c>u) p.(Ala189Val) Both (homozygous) - pathogenic (recessive) g.49210264G>A g.48983125G>A - - FSHR_000002 - PubMed: Aittomaki 1995 - - Germline - - - - - DNA SEQ - - ODG1 Fam6Pat610 PubMed: Aittomaki 1995 sister - - Finland - - - - - 1 Johan den Dunnen
+/. 7 c.566C>T r.(566c>u) p.(Ala189Val) Both (homozygous) - pathogenic (recessive) g.49210264G>A g.48983125G>A - - FSHR_000002 - PubMed: Aittomaki 1995 - - Germline - - - - - DNA SEQ - - ODG1 Fam7PatII2 PubMed: Aittomaki 1995 2-generation family, 2 affected sisters, unaffected heterozygous carrier parents/relatives - - Finland - - - - - 2 Johan den Dunnen
+/. 7 c.566C>T r.(566c>u) p.(Ala189Val) Both (homozygous) - pathogenic (recessive) g.49210264G>A g.48983125G>A - - FSHR_000002 - PubMed: Aittomaki 1995 - - Germline - - - - - DNA SEQ - - ODG1 Fam7PatII3 PubMed: Aittomaki 1995 sister - - Finland - - - - - 1 Johan den Dunnen
-/. - c.603C>T r.(?) p.(Ser201=) Unknown - benign g.49210116G>A g.48982977G>A FSHR(NM_000145.3):c.603C>T (p.S201=) - FSHR_000021 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/+? 8 c.662T>G r.(662u>g) p.(Val221Gly) Unknown - likely pathogenic (recessive) g.49210057A>C g.48982918A>C - - FSHR_000003 - PubMed: Nakamura 2008 - - Germline - - - - - DNA SEQ - - INFF patient PubMed: Nakamura 2008 - F - Japan - - - - - 1 Johan den Dunnen
+/+ 9 c.671A>T r.(671a>u) p.(Asp224Val) Paternal (confirmed) - pathogenic (recessive) g.49196020T>A g.48968881T>A - - FSHR_000004 in vitro functional analysis shows impaired targeting FSHR to cell membrane PubMed: Touraine 1999 - - Germline - - - - - DNA SEQ - - POF patient PubMed: Touraine 1999 2-generation family, 1 affected, unaffected heterozygous carrier parents F no France - - - - - 1 Johan den Dunnen
+?/. - c.847C>T r.(?) p.(Arg283Trp) Unknown - likely pathogenic g.49195844G>A g.48968705G>A FSHR(NM_000145.4):c.847C>T (p.R283W) - FSHR_000020 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.919G>A r.(?) p.(Ala307Thr) Unknown - benign g.49191041C>T g.48963902C>T FSHR(NM_000145.4):c.919G>A (p.A307T) - FSHR_000015 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. 10 c.919G>A r.(?) p.(Ala307Thr) Unknown - VUS g.49191041C>T g.48963902C>T - - FSHR_000015 - PubMed: Nakamura 2008 - - Germline - - - - - DNA SEQ - - INFF patient PubMed: Nakamura 2008 - F - Japan - - - - - 1 Johan den Dunnen
+/+ 10 c.1043C>G r.(1043c>g) p.(Pro348Arg) Paternal (confirmed) - pathogenic (recessive) g.49190917G>C g.48963778G>C - - FSHR_000005 in vitro functional analysis shows completely inactivity and no FSH binding; unknown variant 2 nd chromosome PubMed: Allen 2003 - - Germline - - - - - DNA SEQ - - ? patient PubMed: Allen 2003 - F no United Kingdom (Great Britain) - - - - - 1 Johan den Dunnen
+/+ 10 c.1255G>A r.(1255g>a) p.(Ala419Thr) Parent #1 - pathogenic (recessive) g.49190705C>T g.48963566C>T - - FSHR_000006 in vitro functional analysis shows almost totally abolished cAMP second messenger response PubMed: Doherty 2002, OMIM:var0007 - rs121909661 Germline - - - - - DNA SEQ - - POF patient PubMed: Doherty 2002 - F no Australia Finland - - - - 1 Johan den Dunnen
+?/. - c.1268T>C r.(?) p.(Ile423Thr) Unknown - likely pathogenic g.49190692A>G - FSHR(NM_000145.4):c.1268T>C (p.(Ile423Thr)) - FSHR_000032 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1315G>A r.(?) p.(Gly439Arg) Unknown - VUS g.49190645C>T - FSHR(NM_000145.4):c.1315G>A (p.G439R) - FSHR_000024 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.1384G>C r.(?) p.(Ala462Pro) Paternal (confirmed) - pathogenic (recessive) g.49190576C>G g.48963437C>G - - FSHR_000026 in vitro functional analysis shows barely detectable levels of intracellular signaling in cAMP-dependent CRE-reporter activity and ERK activation and severely reduced plasma membrane receptor expression PubMed: Chen 2023 - - Germline - - - - - DNA SEQ, SEQ-NG - WES INFF patient PubMed: Chen 2023 2-generation family, 1 affected, unaffected heterozygous carrier parents F no China - - - - - 1 Johan den Dunnen
+?/. - c.1400G>T r.(?) p.(Arg467Ile) Unknown - likely pathogenic g.49190560C>A - - - FSHR_000029 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1412T>G r.(?) p.(Ile471Ser) Unknown - VUS g.49190548A>C g.48963409A>C FSHR(NM_000145.4):c.1412T>G (p.I471S) - FSHR_000014 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/+ 10 c.1555C>A r.(1555c>a) p.(Pro519Thr) Both (homozygous) - pathogenic (recessive) g.49190405G>T g.48963266G>T - - FSHR_000007 in vitro functional analysis shows impaired adenylate cyclase stimulation PubMed: Meduri 2003, OMIM:var0010 - rs121909662 Germline - - - - - DNA SEQ - - INFF patient PubMed: Meduri 2003 adopted F - Germany white - - - - 1 Johan den Dunnen
?/. - c.1583A>G r.(?) p.(Gln528Arg) Unknown - VUS g.49190377T>C g.48963238T>C FSHR(NM_000145.3):c.1583A>G (p.Q528R) - FSHR_000019 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.1634T>C r.(?) p.(Ile545Thr) Parent #1 - pathogenic g.49190326A>G g.48963187A>G - - FSHR_000022 1 heterozygous, no homozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs121909664 Germline - 1/2795 individuals - - - DNA arraySNP - Infinium Global Screening Array v1.0 ? - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - 1 Mohammed Faruq
?/. - c.1669C>T r.(?) p.(Arg557Trp) Unknown - VUS g.49190291G>A - FSHR(NM_000145.4):c.1669C>T (p.R557W) - FSHR_000023 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/+ 10 c.1717C>T r.(1717c>u) p.(Arg573Cys) Paternal (confirmed) - pathogenic (recessive) g.49190243G>A g.48963104G>A - - FSHR_000008 in vitro functional analysis COS-7 cells shows altered signal transduction receptor PubMed: Beau 1998, OMIM:var0004 - rs121909660 Germline yes - - - - DNA SEQ - - ? patient PubMed: Beau 1998 - F no Armenia - - - - - 1 Johan den Dunnen
+?/+? 10 c.1724C>T r.(1724c>u) p.(Ala575Val) Both (homozygous) - likely pathogenic g.49190236G>A g.48963097G>A 1723C>T - FSHR_000009 - PubMed: Achrekar 2010 - - Germline - - - - - DNA SEQ - - ? patient PubMed: Achrekar 2010 - F - India - - - - - 1 Johan den Dunnen
+/+ 10 c.1760C>A r.(1760c>a) p.(Pro587His) Paternal (confirmed) - pathogenic (recessive) g.49190200G>T g.48963061G>T - - FSHR_000011 in vitro functional analysis shows complete lack of signal transduction PubMed: Kuechler 2010, OMIM:var0014 - - Germline - - - - - DNA FISH, microscope, SEQ - - ? patient PubMed: Kuechler 2010 2-generation family, 1 affected, unaffected heterozygous carrier parents F - Germany - - - - - 1 Johan den Dunnen
+?/. - c.1798C>A r.(?) p.(Pro600Thr) Unknown - likely pathogenic g.49190162G>T g.48963023G>T FSHR(NM_000145.4):c.1798C>A (p.P600T) - FSHR_000018 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/+ 10 c.1801C>G r.(1801c>g) p.(Leu601Val) Maternal (confirmed) - pathogenic (recessive) g.49190159G>C g.48963020G>C - - FSHR_000010 in vitro analysis shows impairment in signal transduction PubMed: Touraine 1999 - - Germline - - - - - DNA SEQ - - POF patient PubMed: Touraine 1999 2-generation family, 1 affected, unaffected heterozygous carrier parents F no France - - - - - 1 Johan den Dunnen
+/. - c.1862C>T r.(?) p.(Ala621Val) Maternal (confirmed) - pathogenic (recessive) g.49190098G>A g.48962959G>A - - FSHR_000027 in vitro functional analysis shows partial loss of receptor activation without disruption cell surface expression PubMed: Chen 2023 - - Germline - - - - - DNA SEQ, SEQ-NG - WES INFF patient PubMed: Chen 2023 2-generation family, 1 affected, unaffected heterozygous carrier parents F no China - - - - - 1 Johan den Dunnen
-/. - c.2039G>A r.(?) p.(Ser680Asn) Unknown - benign g.49189921C>T g.48962782C>T FSHR(NM_000145.4):c.2039G>A (p.S680N) - FSHR_000013 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.2039G>A r.(2039g>a) p.(Ser680Asn) Unknown - likely benign g.49189921C>T g.48962782C>T - - FSHR_000013 - PubMed: Nakamura 2008 - - Germline - - - - - DNA SEQ - - INFF patient PubMed: Nakamura 2008 - F - Japan - - - - - 1 Johan den Dunnen
-?/. 10 c.2039G>A r.(2039g>a) p.(Ser680Asn) Both (homozygous) - likely benign g.49189921C>T g.48962782C>T G2039A - FSHR_000013 - PubMed: Aittomaki 1995 - - Germline yes - - - - DNA DGGE, SEQ - - ODG1 family PubMed: Aittomaki 1995 - F - Finland - - - - - 1 Johan den Dunnen
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