Unique variants in the FSHR gene

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

2 entries on 1 page. Showing entries 1 - 2.
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Effect     

Reported     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     

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     

Owner     
+/+ 1 7 c.566C>T r.566c>u p.Ala189Val - pathogenic 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 10 c.1255G>A r.1255g>a p.Ala419Thr - pathogenic g.49190705C>T g.48963566C>T - - FSHR_000006 1 more item PubMed: Doherty et al. 2002, {dbSNP:rs121909661}, OMIM:var0007 - rs121909661 SUMMARY record - - - - - Anne Polvi
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