Transcript #00000269

Transcript name transcript variant 1
Gene name FSHR (follicle stimulating hormone receptor)
Chromosome 2
Transcript - NCBI ID NM_000145.3
Transcript - Ensembl ID -
Protein - NCBI ID NP_000136.2
Protein - Ensembl ID -
Protein - Uniprot ID -
Remarks -


Variants

17 entries on 1 page. Showing entries 1 - 17.
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Affects function     

Exon     

AscendingDNA change (cDNA)     

ClassClinical     

RNA change     

Protein     
+/+ 6 c.479T>C - r.479u>c p.Ile160Thr
-?/. - c.485G>A likely benign r.(?) p.(Arg162Lys)
-?/. - c.495C>T likely benign r.(=) p.(=)
+/+ 7 c.566C>T - r.566c>u p.Ala189Val
+?/+? 8 c.662T>G - r.662u>g p.Val221Gly
+/+ 8i_10i c.668+4941_*147473del - r.? p.?
+/+ 9 c.671A>T - r.671a>u p.Asp224Val
-/. - c.919G>A benign r.(?) p.(Ala307Thr)
+/+ 10 c.1043C>G - r.1043c>g p.Pro348Arg
+/+ 10 c.1255G>A - r.1255g>a p.Ala419Thr
?/. - c.1412T>G VUS r.(?) p.(Ile471Ser)
+/+ 10 c.1555C>A - r.1555c>a p.Pro519Thr
+/+ 10 c.1717C>T - r.1717c>u p.Arg573Cys
+?/+? 10 c.1724C>T - r.(1724c>u) p.(Ala575Val)
+/+ 10 c.1760C>A - r.1760c>a p.Pro587His
+/+ 10 c.1801C>G - r.1801c>g p.Leu601Val
-/. - c.2039G>A benign r.(?) p.(Ser680Asn)
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