Full data view for 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.
Legend  

Effect     

AscendingDNA change (cDNA)     

Protein     

GVS function     

Position     

Exon     

PolyPhen     

RNA change     

SIFT     

Allele     

Type     

DNA change (genomic) (hg19)     

Published as     

GERP     

Segregation     

DB-ID     

MSCV     

dbSNP ID     

Frequency     

Sources     

Reference     

Variant remarks     

Genetic origin     

Date     

Template     

Technique     

Tissue     

Description     

Disease     

Reference     

Gender     

Geographic origin     

Ethnic origin     

Population     

Consanguinity     

Age of death     

Cause of death     

Remarks     

Panel size     

Owner     
+/+ c.268C>T p.(=) missense_variant - 2/2 probably_damaging(0.999) r.(=) deleterious(0.01) Unknown subst g.228345727C>T - 3.300 - GJC2_000005 MSCV_0001777 rs74315312 - ; clinvar; 15192806;17344063 - - - - - - - - - - - - - - - - - - -
+/+ c.718C>T p.(=) stop_gained - 2/2 - r.(=) - Unknown subst g.228346177C>T - 3.120 - GJC2_000001 MSCV_0001778 rs74315313 - ; clinvar; 15192806;17344063 - - - - - - - - - - - - - - - - - - -
+/+ c.787G>A p.(=) missense_variant - 2/2 probably_damaging(0.992) r.(=) deleterious(0) Unknown subst g.228346246G>A - 3.940 - GJC2_000002 MSCV_0001779 rs397514734 - ; clinvar; 22669416 - - - - - - - - - - - - - - - - - - -
+/+ c.814T>G p.(=) missense_variant - 2/2 probably_damaging(0.998) r.(=) deleterious(0) Unknown subst g.228346273T>G - 3.940 - GJC2_000003 MSCV_0001780 rs74315314 - ; clinvar; 17344063;15192806 - - - - - - - - - - - - - - - - - - -
+/+ c.857T>C p.(=) missense_variant - 2/2 probably_damaging(0.954) r.(=) deleterious(0) Unknown subst g.228346316T>C - 3.940 - GJC2_000004 MSCV_0001781 rs74315311 - ; clinvar; 15192806;17344063 - - - - - - - - - - - - - - - - - - -
Legend