All variants in the GJB6 gene

Information The variants shown are described using the NM_001110219.2 transcript reference sequence.

2 entries on 1 page. Showing entries 1 - 2.
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Effect     

Exon     

AscendingDNA change (cDNA)     

Published as     

RNA change     

Protein     

GVS function     

Clinical classification     

DNA change (genomic) (hg38)     

Published as     

Reference     

DB-ID     

dbSNP ID     

Frequency     

Variant remarks     

Owner     
+/. - c.301G>A - r.(?) p.(Glu101Lys) - ClinVar g.20223180C>T E101K A Asma et al. (2011), dbSNP, ClinVar GJB6_000001 rs571454176 1/5 - Nuur Athirah Binti Mohd Daud
+/. - c.366del - r.(?) p.(Lys123Serfs*6) - - g.20223115del 366delT A Asma et al. (2011) GJB6_000002 rs1592107753 1/5 - Nuur Athirah Binti Mohd Daud
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