Transcript #00006908

Transcript name transcript variant A
Gene name EFHC1 (EF-hand domain (C-terminal) containing 1)
Chromosome 6
Transcript - NCBI ID NM_018100.3
Transcript - Ensembl ID -
Protein - NCBI ID NP_060570.2
Protein - Ensembl ID -
Protein - Uniprot ID -
Exon/intron information Exon/intron information table: HTML, Txt
Remarks -


Variants

79 entries on 1 page. Showing entries 1 - 79.
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Affects function     

Exon     

AscendingDNA change (cDNA)     

ClassClinical     

RNA change     

Protein     
-?/. - c.-124T>C likely benign r.(?) p.(=)
-/. 1i c.63+123G>C benign r.(?) p.(=)
-?/. - c.64-159C>T likely benign r.(=) p.(=)
-/. - c.64-54del benign r.(=) p.(=)
?/. - c.74T>C VUS r.(?) p.(Phe25Ser)
-?/. - c.97T>C likely benign r.(?) p.(Tyr33His)
?/. - c.137G>A VUS r.(?) p.(Gly46Glu)
?/. - c.229C>A pathogenic (dominant, incomplete penetrance) r.(?) p.(Pro77Thr)
?/. - c.229C>A pathogenic (dominant, incomplete penetrance) r.(?) p.(Pro77Thr)
+/. 2 c.266A>G pathogenic (dominant) r.(?) p.(His89Arg)
-/. - c.475C>G benign r.(?) p.(Arg159Gly)
-/. 3 c.475C>T benign r.(?) p.(Arg159Trp)
+/-? - c.545G>A pathogenic, dominant, incomplete penetrance r.(?) p.(Arg182His)
-/. 3 c.545G>A benign r.(?) p.(Arg182His)
-/. - c.545G>A benign r.(?) p.(Arg182His)
-/. 3 c.573-54G>T benign r.(?) p.(=)
-/. 3i c.573+10A>G benign r.(?) p.(=)
-/. - c.574-205G>A benign r.(=) p.(=)
+/. - c.628G>A pathogenic, dominant, incomplete penetrance r.(?) p.(Asp210Asn)
-/. 4 c.661C>T benign r.(?) p.(Arg221Cys)
?/. - c.662G>A pathogenic (dominant, incomplete penetrance) r.(?) p.(Arg221His)
?/. - c.662G>A pathogenic (dominant, incomplete penetrance) r.(?) p.(Arg221His)
+/. - c.685T>C pathogenic, dominant, incomplete penetrance r.(?) p.(Phe229Leu)
+/. - c.685T>C pathogenic, dominant, incomplete penetrance r.(?) p.(Phe229Leu)
+/. 4 c.685T>C pathogenic (dominant) r.(?) p.(Phe229Leu)
+/. 4 c.685T>C pathogenic (dominant) r.(?) p.(Phe229Leu)
+/. 4 c.685T>C pathogenic (dominant) r.(?) p.(Phe229Leu)
+/. 4 c.685T>C pathogenic (dominant) r.(?) p.(Phe229Leu)
+/. 4 c.685T>C pathogenic (dominant) r.(?) p.(Phe229Leu)
-/. 4 c.685T>C benign r.(?) p.(Phe229Leu)
-?/. - c.685T>C likely benign r.(?) p.(Phe229Leu)
-?/. - c.685T>C^687T>R likely benign r.(?) p.(Phe229Leu)
-?/. - c.723+106C>T likely benign r.(=) p.(=)
-?/. - c.723+106C>T likely benign r.(=) p.(=)
-?/. - c.724-135del likely benign r.(=) p.(=)
-?/. - c.724-81G>A likely benign r.(=) p.(=)
+/. - c.757G>T pathogenic (dominant) r.(?) p.(Asp253Tyr)
-/. 5 c.881G>A benign r.(?) p.(Arg294His)
-?/. - c.881G>A likely benign r.(?) p.(Arg294His)
-?/. - c.881G>A likely benign r.(?) p.(Arg294His)
-?/. - c.887G>A likely benign r.(?) p.(Arg296His)
+?/. 6 c.964G>A - r.(?) p.(Glu322Lys)
+/. 6 c.965G>A pathogenic (dominant) r.(?) p.(Glu322Lys)
+/. 6 c.1056C>T pathogenic (dominant) r.(?) p.(Arg353Trp)
+/. 6 c.1056C>T pathogenic (dominant) r.(?) p.(Arg353Trp)
+/. 6 c.1056C>T pathogenic (dominant) r.(?) p.(Arg353Trp)
+/. 6 c.1056C>T pathogenic (dominant) r.(?) p.(Arg353Trp)
+/. 6 c.1064A>G pathogenic (dominant) r.(?) p.(Tyr355Cys)
-/. - c.1069G>A benign r.(?) p.(Glu357Lys)
+/. 6 c.1114C>T pathogenic (dominant) r.(?) p.(Arg372Trp)
+/. 6 c.1114C>T pathogenic (dominant) r.(?) p.(Arg372Trp)
+/. 6 c.1114C>T pathogenic (dominant) r.(?) p.(Arg372Trp)
+/. 6 c.1114C>T pathogenic (dominant) r.(?) p.(Arg372Trp)
+/. 6 c.1114C>T pathogenic (dominant) r.(?) p.(Arg372Trp)
+/. 6 c.1114C>T pathogenic (dominant) r.(?) p.(Arg372Trp)
+/. 6 c.1114C>T pathogenic (dominant) r.(?) p.(Arg372Trp)
+/. 6 c.1114C>T pathogenic (dominant) r.(?) p.(Arg372Trp)
+?/. 6 c.1132A>G - r.(?) p.(Lys378Glu)
+/. 6 c.1132A>G pathogenic (dominant) r.(?) p.(Lys378Glu)
-?/. - c.1138-157A>T likely benign r.(=) p.(=)
-/. - c.1278+66dup benign r.(=) p.(=)
-/. 7i c.1278+100T>C benign r.(?) p.(=)
-?/. - c.1279-85A>C likely benign r.(=) p.(=)
+/. 8 c.1306C>T pathogenic (dominant) r.(?) p.(Arg436Cys)
-/. 8 c.1343T>C benign r.(?) p.(Met448Thr)
-?/. - c.1385T>C likely benign r.(?) p.(Ile462Thr)
+/. 8 c.1453T>C pathogenic (dominant) r.(?) p.(Tyr485His)
+/. 9 c.1556A>G pathogenic (dominant) r.(?) p.(Asn519Ser)
-/. 9i c.1640+77A>C benign r.(?) p.(=)
+/. 10 c.1666G>T pathogenic (dominant) r.(?) p.(Val556Leu)
-/. 10 c.1675T>C benign r.(?) p.(=)
-/. 10i c.1851+58T>C benign r.(?) p.(=)
-?/. - c.1852-201del likely benign r.(=) p.(=)
-?/. - c.1852-58T>C likely benign r.(=) p.(=)
-/. 11 c.1855A>C benign r.(?) p.(Ile619Leu)
+/. 11 c.1856T>G pathogenic (dominant) r.(?) p.(Ile619Ser)
+/. 11 c.1892A>G pathogenic (dominant) r.(?) p.(Tyr631Cys)
+/. 11 c.1892A>G pathogenic (dominant) r.(?) p.(Tyr631Cys)
-/. 11 c.1923+121C>A benign r.(?) p.(=)
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