Full data view for gene EFHC1

Information The variants shown are described using the NM_018100.3 transcript reference sequence.

53 entries on 1 page. Showing entries 1 - 53.
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Effect     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     

Allele     

DNA change (genomic) (hg38)     

Reference     

DB-ID     

Frequency     

Template     

Technique     

Disease     

Reference     

Remarks     

Panel size     

Owner     
-?/. - c.475C>G r.(?) p.(Arg159Gly) Unknown g.52438493C>G - EFHC1_000002 - DNA SEQ JME - - 1 Marina Gonsales
-?/. - c.475C>T r.(?) p.(Arg159Trp) Unknown g.52438493C>T - EFHC1_000001 - DNA SEQ JME - - 1 Marina Gonsales
-?/. - c.475C>T r.(?) p.(Arg159Trp) Unknown g.52438493C>T - EFHC1_000001 - DNA SEQ JME - - 1 Marina Gonsales
-?/. - c.475C>T r.(?) p.(Arg159Trp) Unknown g.52438493C>T - EFHC1_000001 - DNA SEQ JME - - 1 Marina Gonsales
-?/. - c.475C>T r.(?) p.(Arg159Trp) Unknown g.52438493C>T - EFHC1_000001 - DNA SEQ JME - - 1 Marina Gonsales
-?/. - c.475C>T r.(?) p.(Arg159Trp) Unknown g.52438493C>T - EFHC1_000001 - DNA SEQ JME - - 1 Marina Gonsales
-?/. - c.475C>T r.(?) p.(Arg159Trp) Unknown g.52438493C>T - EFHC1_000001 - DNA SEQ JME - - 1 Marina Gonsales
-?/. - c.475C>T r.(?) p.(Arg159Trp) Unknown g.52438493C>T - EFHC1_000001 - DNA SEQ JME - - 1 Marina Gonsales
-?/. - c.475C>T r.(?) p.(Arg159Trp) Unknown g.52438493C>T - EFHC1_000001 - DNA SEQ JME - - 1 Marina Gonsales
-?/. - c.475C>T r.(?) p.(Arg159Trp) Unknown g.52438493C>T - EFHC1_000001 - DNA SEQ JME - - 1 Marina Gonsales
-?/. - c.475C>T r.(?) p.(Arg159Trp) Unknown g.52438493C>T - EFHC1_000001 - DNA SEQ JME - - 1 Marina Gonsales
-?/. - c.475C>T r.(?) p.(Arg159Trp) Unknown g.52438493C>T - EFHC1_000001 - DNA SEQ JME - - 1 Marina Gonsales
-?/. - c.475C>T r.(?) p.(Arg159Trp) Unknown g.52438493C>T - EFHC1_000001 - DNA SEQ JME - - 1 Marina Gonsales
-?/. - c.475C>T r.(?) p.(Arg159Trp) Unknown g.52438493C>T - EFHC1_000001 - DNA SEQ JME - - 1 Marina Gonsales
-?/. - c.475C>T r.(?) p.(Arg159Trp) Unknown g.52438493C>T - EFHC1_000001 - DNA SEQ JME - - 1 Marina Gonsales
-?/. - c.475C>T r.(?) p.(Arg159Trp) Unknown g.52438493C>T - EFHC1_000001 - DNA SEQ JME - - 1 Marina Gonsales
-?/. - c.475C>T r.(?) p.(Arg159Trp) Unknown g.52438493C>T - EFHC1_000001 - DNA SEQ JME - - 1 Marina Gonsales
-?/. - c.475C>T r.(?) p.(Arg159Trp) Unknown g.52438493C>T - EFHC1_000001 - DNA SEQ JME - - 1 Marina Gonsales
-?/. - c.545G>A r.(?) p.(Arg182His) Unknown g.52438563G>A - EFHC1_000003 - DNA SEQ JME - - 1 Marina Gonsales
-?/. - c.545G>A r.(?) p.(Arg182His) Unknown g.52438563G>A - EFHC1_000003 - DNA SEQ JME - - 1 Marina Gonsales
-?/. - c.545G>A r.(?) p.(Arg182His) Unknown g.52438563G>A - EFHC1_000003 - DNA SEQ JME - - 1 Marina Gonsales
-?/. - c.545G>A r.(?) p.(Arg182His) Unknown g.52438563G>A - EFHC1_000003 - DNA SEQ JME - - 1 Marina Gonsales
-?/. - c.545G>A r.(?) p.(Arg182His) Unknown g.52438563G>A - EFHC1_000003 - DNA SEQ JME - - 1 Marina Gonsales
?/. - c.662G>A r.(?) p.(Arg221His) Unknown g.52452776G>A - EFHC1_000004 - DNA SEQ JME - - 1 Marina Gonsales
+?/. - c.685T>C r.(?) p.(Phe229Leu) Unknown g.52452799T>C - EFHC1_000005 - DNA SEQ JME - - 1 Marina Gonsales
+?/. - c.685T>C r.(?) p.(Phe229Leu) Unknown g.52452799T>C - EFHC1_000005 - DNA SEQ JME - - 1 Marina Gonsales
+?/. - c.685T>C r.(?) p.(Phe229Leu) Unknown g.52452799T>C - EFHC1_000005 - DNA SEQ JME - - 1 Marina Gonsales
?/. - c.887G>A r.(?) p.(Arg296His) Unknown g.52454258G>A - EFHC1_000007 - DNA SEQ JME - - 1 Marina Gonsales
?/. - c.887G>A r.(?) p.(Arg296His) Unknown g.52454258G>A - EFHC1_000007 - DNA SEQ JME - - 1 Marina Gonsales
?/. - c.896A>G r.(?) p.(Lys299Arg) Unknown g.52454267A>G - EFHC1_000008 - DNA SEQ JME - - 1 Marina Gonsales
-?/. - c.1343T>C r.(?) p.(Met448Thr) Unknown g.52479101T>C - EFHC1_000006 - DNA SEQ JME - - 1 Marina Gonsales
-?/. - c.1343T>C r.(?) p.(Met448Thr) Unknown g.52479101T>C - EFHC1_000006 - DNA SEQ JME - - 1 Marina Gonsales
-?/. - c.1343T>C r.(?) p.(Met448Thr) Unknown g.52479101T>C - EFHC1_000006 - DNA SEQ JME - - 1 Marina Gonsales
-?/. - c.1343T>C r.(?) p.(Met448Thr) Unknown g.52479101T>C - EFHC1_000006 - DNA SEQ JME - - 1 Marina Gonsales
-?/. - c.1343T>C r.(?) p.(Met448Thr) Unknown g.52479101T>C - EFHC1_000006 - DNA SEQ JME - - 1 Marina Gonsales
-?/. - c.1343T>C r.(?) p.(Met448Thr) Unknown g.52479101T>C - EFHC1_000006 - DNA SEQ JME - - 1 Marina Gonsales
-?/. - c.1343T>C r.(?) p.(Met448Thr) Unknown g.52479101T>C - EFHC1_000006 - DNA SEQ JME - - 1 Marina Gonsales
-?/. - c.1343T>C r.(?) p.(Met448Thr) Unknown g.52479101T>C - EFHC1_000006 - DNA SEQ JME - - 1 Marina Gonsales
?/. - c.1765G>A r.(?) p.(Glu589Lys) Unknown g.52490264G>A - EFHC1_000009 - DNA SEQ JME - - 1 Marina Gonsales
?/. - c.1820A>G r.(?) p.(Asn607Ser) Unknown g.52490319A>G - EFHC1_000010 - DNA SEQ JME - - 1 Marina Gonsales
-?/. - c.1855A>C r.(?) p.(Ile619Leu) Unknown g.52492273A>C - EFHC1_000011 - DNA SEQ JME - - 1 Marina Gonsales
-?/. - c.1855A>C r.(?) p.(Ile619Leu) Unknown g.52492273A>C - EFHC1_000011 - DNA SEQ JME - - 1 Marina Gonsales
-?/. - c.1855A>C r.(?) p.(Ile619Leu) Unknown g.52492273A>C - EFHC1_000011 - DNA SEQ JME - - 1 Marina Gonsales
-?/. - c.1855A>C r.(?) p.(Ile619Leu) Unknown g.52492273A>C - EFHC1_000011 - DNA SEQ JME - - 1 Marina Gonsales
-?/. - c.1855A>C r.(?) p.(Ile619Leu) Unknown g.52492273A>C - EFHC1_000011 - DNA SEQ JME - - 1 Marina Gonsales
-?/. - c.1855A>C r.(?) p.(Ile619Leu) Unknown g.52492273A>C - EFHC1_000011 - DNA SEQ JME - - 1 Marina Gonsales
-?/. - c.1855A>C r.(?) p.(Ile619Leu) Unknown g.52492273A>C - EFHC1_000011 - DNA SEQ JME - - 1 Marina Gonsales
-?/. - c.1855A>C r.(?) p.(Ile619Leu) Unknown g.52492273A>C - EFHC1_000011 - DNA SEQ JME - - 1 Marina Gonsales
-?/. - c.1855A>C r.(?) p.(Ile619Leu) Unknown g.52492273A>C - EFHC1_000011 - DNA SEQ JME - - 1 Marina Gonsales
-?/. - c.1855A>C r.(?) p.(Ile619Leu) Unknown g.52492273A>C - EFHC1_000011 - DNA SEQ JME - - 1 Marina Gonsales
-?/. - c.1855A>C r.(?) p.(Ile619Leu) Unknown g.52492273A>C - EFHC1_000011 - DNA SEQ JME - - 1 Marina Gonsales
-?/. - c.1855A>C r.(?) p.(Ile619Leu) Unknown g.52492273A>C - EFHC1_000011 - DNA SEQ JME - - 1 Marina Gonsales
-?/. - c.1855A>C r.(?) p.(Ile619Leu) Unknown g.52492273A>C - EFHC1_000011 - DNA SEQ GTCSa - - 1 Marina Gonsales
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