Transcript #00000295 (NM_198270.2, NHS gene)

Transcript name transcript variant 1
Gene name NHS (Nance-Horan syndrome (congenital cataracts and dental anomalies))
Chromosome X
Transcript - NCBI ID NM_198270.2
Transcript - Ensembl ID -
Protein - NCBI ID NP_938011.1
Protein - Ensembl ID -
Protein - Uniprot ID -
Exon/intron information Exon/intron information table: HTML, Txt
Remarks -


Variants

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

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     
?/. - c.106C>T r.(?) p.(Pro36Ser)
?/. - c.152C>T r.(?) p.(Ala51Val)
?/. - c.176G>A r.(?) p.(Arg59His)
-?/. - c.177C>A r.(?) p.(Arg59=)
?/. - c.190C>T r.(?) p.(Pro64Ser)
-?/. - c.211C>T r.(?) p.(Pro71Ser)
-?/. - c.211C>T r.(?) p.(Pro71Ser)
-?/. - c.216_218del r.(?) p.(Pro73del)
?/. - c.216_218del r.(?) p.(Pro73del)
-/. - c.310_345del r.(?) p.(Pro104_Ala115del)
-/. - c.310_345del r.(?) p.(Pro104_Ala115del)
?/. - c.310_345del r.(?) p.(Pro104_Ala115del)
?/. - c.348_350del r.(?) p.(Ala117del)
-?/. - c.353T>C r.(?) p.(Val118Ala)
-?/. - c.513C>T r.(?) p.(Leu171=)
?/. - c.546C>G r.(?) p.(Asp182Glu)
-?/. - c.565+7A>C r.(=) p.(=)
?/. 1i c.566-93365G>A r.(=) p.(=)
?/. 1i c.566-93365G>A r.(=) p.(=)
-?/. - c.566-52165C>T r.(=) p.(=)
-?/. - c.566-52165C>T r.(=) p.(=)
?/. - c.566-52157A>T r.(=) p.(=)
?/. - c.566-52142G>A r.(=) p.(=)
?/. 1i c.566-10dup r.(=) p.(=)
?/. 1i c.566-10dup r.(=) p.(=)
-/. - c.566-10dup r.(=) p.(=)
?/. 1i c.566-10dup r.(=) p.(=)
?/. 1i c.566-10dup r.(=) p.(=)
-?/. - c.566-5T>C r.spl? p.?
-?/. - c.566-5T>C r.spl? p.?
?/. - c.568G>A r.(?) p.(Val190Ile)
+/. - c.609C>A r.(?) p.(Tyr203Ter)
+/. - c.663del r.(?) p.(Cys222Alafs*62)
-?/. - c.683G>A r.(?) p.(Arg228His)
-?/. - c.688G>A r.(?) p.(Ala230Thr)
+/. - c.694C>T r.(?) p.(Gln232*)
?/. 2i c.719-102del r.(=) p.(=)
?/. - c.739C>T r.(?) p.(Arg247Cys)
-?/. - c.739C>T r.(?) p.(Arg247Cys)
-?/. - c.765C>G r.(=) p.(=)
-?/. - c.765C>G r.(?) p.(Pro255=)
+/. 3 c.766dup r.(?) p.(Leu256Profs*21)
-?/. - c.828G>A r.(?) p.(Glu276=)
?/. - c.842A>G r.(?) p.(His281Arg)
-?/. - c.852G>A r.(?) p.(Thr284=)
+/. - c.853-2A>G r.spl? p.?
+?/. - c.985G>T r.(?) p.(Glu329*)
+/. - c.1044del r.(?) p.(Gly349GlufsTer27)
-?/. - c.1045+6G>A r.(=) p.(=)
-?/. - c.1112G>A r.(?) p.(Arg371Gln)
+/. - c.1117C>T r.(?) p.(Arg373Ter)
?/. - c.1146G>A r.(?) p.(Ser382=)
-?/. - c.1255A>G r.(?) p.(Arg419Gly)
?/. - c.1255A>G r.(?) p.(Arg419Gly)
-?/. - c.1308T>C r.(?) p.(Ala436=)
-?/. - c.1408G>A r.(?) p.(Asp470Asn)
?/. - c.1408G>A r.(?) p.(Asp470Asn)
?/. 6 c.1438C>T r.(?) p.(Arg480Cys)
./. - c.1450C>T r.(?) p.(Arg484Trp)
-?/. - c.1503C>T r.(?) p.(Gly501=)
-?/. - c.1533G>A r.(?) p.(Glu511=)
-?/. - c.1560C>T r.(?) p.(Thr520=)
-/. - c.1651C>T r.(?) p.(Pro551Ser)
-/. - c.1651C>T r.(?) p.(Pro551Ser)
?/. - c.1651C>T r.(?) p.(Pro551Ser)
-?/. - c.1651C>T r.(?) p.(Pro551Ser)
-/. - c.1651C>T r.(?) p.(Pro551Ser)
-/. - c.1655A>C r.(?) p.(Gln552Pro)
-?/. - c.1684C>T r.(?) p.(Arg562Cys)
?/. - c.1772C>T r.(?) p.(Thr591Met)
?/. - c.1862C>A r.(?) p.(Pro621His)
?/. - c.2005C>T r.(?) p.(His669Tyr)
+?/. - c.2056G>T r.(?) p.(Ala686Ser)
?/. - c.2056G>T r.(?) p.(Ala686Ser)
-?/. - c.2109T>A r.(?) p.(Asn703Lys)
-?/. - c.2214T>C r.(?) p.(Tyr738=)
?/. - c.2234C>T r.(?) p.(Ser745Phe)
?/. - c.2267T>C r.(?) p.(Phe756Ser)
-?/. - c.2267T>C r.(?) p.(Phe756Ser)
-?/. - c.2267T>C r.(?) p.(Phe756Ser)
-?/. - c.2267T>C r.(?) p.(Phe756Ser)
-?/. - c.2418G>A r.(=) p.(=)
?/. - c.2530G>A r.(?) p.(Ala844Thr)
?/. - c.2530G>A r.(?) p.(Ala844Thr)
-?/. - c.2530G>A r.(?) p.(Ala844Thr)
?/. - c.2600T>C r.(?) p.(Met867Thr)
?/. - c.2600T>C r.(?) p.(Met867Thr)
-?/. - c.2625C>T r.(?) p.(Asn875=)
+/. - c.2635C>T r.(?) p.(Arg879Ter)
-?/. - c.2646C>T r.(?) p.(Asn882=)
?/. - c.2657C>T r.(?) p.(Pro886Leu)
-?/. - c.2699G>A r.(?) p.(Gly900Asp)
-?/. - c.2728G>T r.(?) p.(Asp910Tyr)
-/. - c.2768A>T r.(?) p.(His923Leu)
?/. - c.2768A>T r.(?) p.(His923Leu)
?/. - c.2789T>G r.(?) p.(Leu930Arg)
+/. - c.2896C>T r.(?) p.(Gln966Ter)
+/. - c.3019C>T r.(?) p.(Gln1007*)
-?/. - c.3078C>T r.(?) p.(Pro1026=)
-?/. - c.3117A>G r.(?) p.(Lys1039=)
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