Unique variants in gene MED12

Information The variants shown are described using the NM_005120.2 transcript reference sequence.

8 entries on 1 page. Showing entries 1 - 8.
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Effect     

Reported     

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     
./. 1 c.204+10_204+11del p.(=) - - - - r.(=) - - g.70339337_70339338del - - - MED12_000003 - - ; clinvar; - - - LOVD
?/? 1 c.1096C>T p.(=) synonymous_variant - 7/45 - r.(=) - subst g.70341661C>T - 2.970 - MED12_000001 - - ; - - - LOVD
?/? 1 c.1146A>G p.(=) synonymous_variant - 8/45 - r.(=) - subst g.70342094A>G - -4.980 - MED12_000002 - - ; - - - LOVD
./. 1 c.1695T>A p.(=) - - - - r.(=) - - g.70343521T>A - - - MED12_000004 - - ; clinvar; - - - LOVD
./. 1 c.2545T>C p.(Ser849Pro) - - - - r.(?) - - g.70346194T>C - - - MED12_000005 - - ; clinvar; - - - LOVD
./. 1 c.4021C>T p.(Arg1341Trp) - - - - r.(?) - - g.70350038C>T - - - MED12_000006 - - ; clinvar; - - - LOVD
./. 1 c.4115A>G p.(Asn1372Ser) - - - - r.(?) - - g.70351467A>G - - - MED12_000007 - - ; clinvar; - - - LOVD
./. 1 c.4488C>T p.(=) - - - - r.(=) - - g.70352767C>T - - - MED12_000008 - - ; clinvar; - - - LOVD
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