View all transcript variants in gene GJC2

Information The variants shown are described using the NM_020435.3 transcript reference sequence.

5 entries on 1 page. Showing entries 1 - 5.
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Effect     

AscendingDNA change (cDNA)     

Protein     

GVS function     

Position     

Exon     

PolyPhen     

RNA change     

SIFT     

Type     

DNA change (genomic) (hg19)     

Published as     

GERP     

Segregation     

DB-ID     

dbSNP ID     

Frequency     

Sources     

Reference     

Variant remarks     

Genetic origin     

Owner     
+/+ c.268C>T p.(=) missense_variant - 2/2 probably_damaging(0.999) r.(=) deleterious(0.01) subst g.228345727C>T - 3.300 - GJC2_000005 rs74315312 - ; clinvar; 15192806;17344063 - - LOVD
+/+ c.718C>T p.(=) stop_gained - 2/2 - r.(=) - subst g.228346177C>T - 3.120 - GJC2_000001 rs74315313 - ; clinvar; 15192806;17344063 - - LOVD
+/+ c.787G>A p.(=) missense_variant - 2/2 probably_damaging(0.992) r.(=) deleterious(0) subst g.228346246G>A - 3.940 - GJC2_000002 rs397514734 - ; clinvar; 22669416 - - LOVD
+/+ c.814T>G p.(=) missense_variant - 2/2 probably_damaging(0.998) r.(=) deleterious(0) subst g.228346273T>G - 3.940 - GJC2_000003 rs74315314 - ; clinvar; 17344063;15192806 - - LOVD
+/+ c.857T>C p.(=) missense_variant - 2/2 probably_damaging(0.954) r.(=) deleterious(0) subst g.228346316T>C - 3.940 - GJC2_000004 rs74315311 - ; clinvar; 15192806;17344063 - - LOVD
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