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

37 entries on 1 page. Showing entries 1 - 37.
Legend  

Affects function     

Exon     

AscendingDNA change (cDNA)     

ClassClinical     

RNA change     

Protein     
+?/. - 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.(=)
+/. 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.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)
Legend