Transcript #00017115 (NM_000316.2, PTH1R gene)

Transcript name transcript variant 1
Gene name PTH1R (parathyroid hormone 1 receptor)
Chromosome 3
Transcript - NCBI ID NM_000316.2
Transcript - Ensembl ID -
Protein - NCBI ID NP_000307.1
Protein - Ensembl ID -
Protein - Uniprot ID -
Exon/intron information Exon/intron information table: HTML, Txt
Remarks -
Date created 0000-00-00 00:00:00 +00:19 (LMT)
Date last edited N/A


Variants

117 entries on 2 pages. Showing entries 1 - 100.
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Affects function     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     
-/. - c.76-1437C>G r.(=) p.(=)
+/. - c.109C>A r.(?) p.(Gln37Lys)
?/. - c.145G>A r.(?) p.(Glu49Lys)
?/. - c.152G>T r.(?) p.(Arg51Leu)
-?/. - c.152G>T r.(?) p.(Arg51Leu)
-?/. - c.215C>T r.(?) p.(Ala72Val)
?/. - c.226G>C r.(?) p.(Gly76Arg)
?/. - c.226G>C r.(?) p.(Gly76Arg)
-?/. - c.299G>A r.(?) p.(Gly100Asp)
?/. - c.299G>A r.(?) p.(Gly100Asp)
?/. - c.299G>A r.(?) p.(Gly100Asp)
+/. 5 c.310C>T r.(?) p.(Arg104*)
+?/. - c.310_313+4del r.(?) p.(?)
?/. - c.313+3A>T r.spl? p.?
-?/. - c.313+4C>T r.spl? p.?
-?/. - c.313+4C>T r.spl? p.?
+?/. 6 c.356C>T r.(?) p.(Pro119Leu)
+/. 6 c.362G>A r.(?) p.(Gly121Glu)
+/. 6 c.364G>A r.(?) p.(Ala122Thr)
+/. 6 c.395C>T r.(?) p.(Pro132Leu)
+/. 6 c.395C>T r.(?) p.(Pro132Leu)
+?/. 6 c.395C>T r.(?) p.(Pro132Leu)
+/. 6 c.395C>T r.(?) p.(Pro132Leu)
+?/. - c.424+1G>T r.spl? p.?
-?/. - c.425-3C>T r.spl? p.?
-?/. - c.436C>A r.(?) p.(Arg146=)
-?/. - c.436C>A r.(?) p.(Arg146=)
+?/. 7 c.439C>T r.(?) p.(Arg147Cys)
-?/. - c.448C>T r.(?) p.(Arg150Cys)
?/. - c.448C>T r.(?) p.(Arg150Cys)
-?/. - c.448C>T r.(?) p.(Arg150Cys)
-?/. - c.448C>T r.(?) p.(Arg150Cys)
-?/. - c.448C>T r.(?) p.(Arg150Cys)
-?/. - c.448C>T r.(?) p.(Arg150Cys)
+/. 7 c.449G>A r.(?) p.(Arg150His)
+/. 7 c.449G>A r.(?) p.(Arg150His)
+/. 7 c.449G>A r.(?) p.(Arg150His)
?/. - c.449G>T r.(?) p.(Arg150Leu)
+?/. 7 c.463G>T r.(?) p.(Glu155*)
?/. - c.527A>G r.(?) p.(Asn176Ser)
?/. - c.541C>T r.(?) p.(Arg181Trp)
+?/. i7 c.543+1G>A r.spl? p.Glu182Valfs*20
+?/. - c.543+1G>C r.spl p.?
?/. - c.543+4C>T r.spl? p.?
+?/. 8 c.557G>A r.(?) p.(Arg186His)
+?/. 8 c.557G>A r.(?) p.(Arg186His)
+?/. 8 c.557G>A r.(?) p.(Arg186His)
+?/. 8 c.557G>A r.(?) p.(Arg186His)
?/. 8 c.572del r.(?) p.(Tyr191Serfs*14)
?/. 8 c.572del r.(?) p.(Tyr191Serfs*14)
?/. 8 c.572del r.(?) p.(Tyr191Serfs*14)
?/. - c.626T>C r.(?) p.(Leu209Pro)
-?/. 8i c.638+46dup r.(=) p.(=)
?/. 8i c.639-93G>A r.(=) p.(=)
?/. 8i c.639-93G>A r.(=) p.(=)
?/. 9 c.646C>A r.(?) p.(His216Asn)
?/. 9 c.646C>A r.(?) p.(His216Asn)
+/. 9 c.668A>G r.(?) p.(His223Arg)
+/. 9 c.668A>G r.(?) p.(His223Arg)
+/. 9 c.668A>G r.(?) p.(His223Arg)
+/. 9 c.668A>G r.(?) p.(His223Arg)
+/. 9 c.668A>G r.(?) p.(His223Arg)
+/. 9 c.668A>G r.(?) p.(His223Arg)
+/. 9 c.668A>G r.(?) p.(His223Arg)
-?/. - c.711C>A r.(?) p.(Ile237=)
+/. 9 c.764G>A r.(?) p.(Arg255His)
?/. - c.825_827dup r.(?) p.(Ala276dup)
?/. - c.829G>A r.(?) p.(Gly277Ser)
+?/. - c.915C>A r.(?) p.(Tyr305Ter)
?/. - c.940T>G r.(?) p.(Phe314Val)
?/. - c.941T>C r.(?) p.(Phe314Ser)
+?/. 11 c.996dup r.(?) p.(Ala333Argfs*66)
+?/. 11 c.996dup r.(?) p.(Ala333Argfs*66)
+?/. 11 c.996dup r.(?) p.(Ala333Argfs*66)
+/. 11i c.1049+27G>A r.[=, 1049_1050ins1049+1_1049+27] p.Cys351*
+?/. 11i c.1050-3C>G r.1049_1116del p.Cys351Serfs*133
+?/. i11 c.1050-3C>G r.1049_1116del p.Cys351Serfs*133
-?/. - c.1050-3dup r.spl? p.?
?/. - c.1069G>A r.(?) p.(Gly357Arg)
+/. 12 c.1093del r.(?) p.(Val365Cysfs*141)
?/. - c.1111A>C r.(?) p.(Ile371Leu)
?/. - c.1112T>C r.(?) p.(Ile371Thr)
?/. - c.1144G>A r.(?) p.(Val382Ile)
+?/. 13 c.1148G>A r.(?) p.(Arg383Gln)
+/. 13 c.1148G>A r.1117_1148del p.Leu373_Arg383del
?/. - c.1183G>A r.(?) p.(Gly395Ser)
?/. - c.1198C>T r.(?) p.(Arg400Trp)
?/. - c.1198C>T r.(?) p.(Arg400Trp)
?/. - c.1211G>A r.(?) p.(Arg404Gln)
+/. 14 c.1228A>C r.(?) p.(Thr410Pro)
+/. 14 c.1229C>G r.(?) p.(Thr410Arg)
+/. 14 c.1229C>G r.(?) p.(Thr410Arg)
+/. 14 c.1229C>G r.(?) p.(Thr410Arg)
?/. - c.1304C>T r.(?) p.(Thr435Met)
?/. - c.1328A>G r.(?) p.(Tyr443Cys)
+/. 14i c.1354-1G>A r.spl? p.?
+?/. 14i c.1354-1G>A r.spl? p.?
+?/. 14i c.1354-1G>A r.spl? p.?
+?/. 14i c.1354-1G>A r.spl? p.?
?/. - c.1366G>A r.(?) p.(Ala456Thr)
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