Transcript #00005720

Transcript name crystallin, gamma C
Gene name CRYGC (crystallin, gamma C)
Chromosome 2
Transcript - NCBI ID NM_020989.3
Transcript - Ensembl ID -
Protein - NCBI ID NP_066269.1
Protein - Ensembl ID -
Protein - Uniprot ID -
Exon/intron information Exon/intron information table: HTML, Txt
Remarks -


Variants

65 entries on 1 page. Showing entries 1 - 65.
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Affects function     

Exon     

AscendingDNA change (cDNA)     

ClassClinical     

RNA change     

Protein     
?/. - c.-16100T>C VUS r.(?) p.(=)
?/. - c.-16053G>A VUS r.(?) p.(=)
-/. - c.-16042T>C benign r.(?) p.(=)
-?/. - c.-16014G>A likely benign r.(?) p.(=)
-?/. - c.-15982G>A likely benign r.(?) p.(=)
-?/. - c.-13050C>T likely benign r.(?) p.(=)
+?/. - c.1A>G likely pathogenic r.(?) p.?
+?/. 1i c.10-1G>A - r.spl p.?
+/. 2 c.13A>C - r.(?) p.(Thr5Pro)
+/. 2 c.13A>C - r.(?) p.(Thr5Pro)
+/. 2 c.13A>C - r.(?) p.(Thr5Pro)
+/. 2 c.13A>C - r.(?) p.Thr5Pro
+/. 2 c.13A>C - r.(?) p.(Thr5Pro)
-/. 2 c.33C>T - r.(?) p.(=)
+?/. - c.61_63del likely pathogenic r.(?) p.(Thr21del)
+/. 2 c.119_123dup - r.(?) p.(Cys42Alafs*63)
-/. - c.120C>T benign r.(?) p.(=)
+/. 2 c.124delT - r.(?) p.(Cys42Alafs*61)
+/. 2 c.124delT - r.(?) p.(Cys42Alafs*61)
+?/. 2 c.134T>C - r.(?) p.(Leu45Pro)
?/. 2 c.143G>A - r.(?) p.(Arg48His)
?/. 2 c.143G>A - r.(?) p.(Arg48His)
-?/. - c.152A>G likely benign r.(?) p.(Tyr51Cys)
+/. - c.154_163del pathogenic r.(?) p.(Gln52Asnfs*48)
?/. - c.164A>G VUS r.(?) p.(Gln55Arg)
-?/. - c.176G>A likely benign r.(?) p.(Arg59Gln)
-?/. - c.219C>A likely benign r.(?) p.(Ser73Arg)
-?/. - c.253-6G>A likely benign r.(=) p.(=)
-?/. - c.317G>A likely benign r.(?) p.(Ser106Asn)
+/. 3 c.327C>A - r.(?) p.(Cys109*)
-/. 3 c.357C>T - r.(?) p.(=)
+/. 3 c.385G>T - r.(?) p.(Gly129Cys)
+/. 3 c.402C>G - r.(?) p.(Tyr134*)
+/. - c.470G>A pathogenic r.(?) p.(Trp157*)
+/. 3 c.470G>A - r.(?) p.(Trp157*)
+/. 3 c.471G>A - r.(?) p.(Trp157*)
+/. 3 c.471G>A - r.(?) p.(Trp157*)
+/. 3 c.471G>A - r.(?) p.(Trp157*)
+/. 3 c.471G>A - r.(?) p.(Trp157*)
+/. 3 c.471G>A - r.(?) p.(Trp157*)
+/. 3 c.471G>A - r.(?) p.(Trp157*)
?/. - c.473G>A VUS r.(?) p.(Gly158Glu)
?/. - c.497C>G VUS r.(?) p.(Ser166Cys)
?/. 3 c.497C>T - r.(?) p.(Ser166Phe)
+/. 3 c.502C>T - r.(?) p.(Arg168Trp)
+/. 3 c.502C>T - r.(?) p.(Arg168Trp)
+/. 3 c.502C>T - r.(?) p.(Arg168Trp)
-?/. - c.*3842C>G likely benign r.(=) p.(=)
-/. - c.*3890T>C benign r.(=) p.(=)
-/. - c.*3890T>C benign r.(=) p.(=)
-?/. - c.*3902C>T likely benign r.(=) p.(=)
-?/. - c.*3969A>G likely benign r.(=) p.(=)
-?/. - c.*3969A>G likely benign r.(=) p.(=)
-?/. - c.*3994C>G likely benign r.(=) p.(=)
-/. - c.*4007C>G benign r.(=) p.(=)
-?/. - c.*4007C>G likely benign r.(=) p.(=)
-?/. - c.*4027A>G likely benign r.(=) p.(=)
-?/. - c.*4079C>T likely benign r.(=) p.(=)
-?/. - c.*4098A>G likely benign r.(=) p.(=)
-/. - c.*6290A>G benign r.(=) p.(=)
?/. - c.*6381G>A VUS r.(=) p.(=)
?/. - c.*6381G>A VUS r.(=) p.(=)
-?/. - c.*6413G>A likely benign r.(=) p.(=)
-?/. - c.*6440G>A likely benign r.(=) p.(=)
-/. - c.*6542T>C benign r.(=) p.(=)
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