Full database search - CCHMC Molecular Genetics Laboratory Mutation Database

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The variants below are all in the CASP10 database, matching your query. All fields are shown, including patient and pathogenicity information. A '+' in the DNA change field indicates that more variants were found in this patient. Variants reported in a gene database other than CASP10, are reported as the gene symbol with the number of reported variants between parenthesis.
Selecting and clicking a specific line will open a detailed view showing all details per patient.
At the bottom of this page a legend is provided with a short explanation of what each field contains.
For a more detailed description of each field, please see the CASP10 full legend here.

14 public entries
entries per page

Path.

DNA change

Protein

dbSNP ID

Race

Reference

Ethnic origin


-/-?	+ 1113 others	p.S239C	rs41473647	-	-	-
-/-?	+ 1113 others	p.L285F	rs17860403	-	-	-
-/-?	+ 1113 others	p.V410I	rs13010627	-	-	-
-/-?	+ 1113 others	p.A414V	rs28936699	-	-	-
-/-?	+ 1113 others	p.A432A	rs41331850	-	-	-
-/-?	+ 1113 others	p.P444S	rs41513147	-	-	-
-/-?	+ 1113 others	p.Y446C	rs17860405	-	-	-
-/-?	c.157G>A + 1113 others	p.E53K	rs1804650	-	-	-
-/-?	c.177A>G + 1113 others	p.S59S	rs3900115	-	-	-
+/+?	c.853C>T + 3359 others	p.L285F	-	-	-	-
+/+?	c.1216A>T + 3359 others	p.I406L	-	-	-	-
+/+?	c.1228G>A + 3359 others	p.V410I	-	-	-	-
+/+?	c.1337A>G + 3359 others	p.Y446C	-	-	-	-
+/+?	c.1502C>T + 3359 others	p.P501L	-	-	-	-

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Legend: [ CASP10 full legend ]
Sequence variations are described basically as recommended by the Ad-Hoc Committee for Mutation Nomenclature (AHCMN), with the recently suggested additions (den Dunnen JT and Antonarakis SE [2000], Hum.Mut. 15:7-12); for a summary see Nomenclature. Coding DNA Reference Sequence, with the first base of the Met-codon counted as position 1.
Path.: Variant pathogenicity, in the format Reported/Concluded; '+' indicating the variant is pathogenic, '+?' probably pathogenic, '-' no known pathogenicity, '-?' probably no pathogenicity, '?' effect unknown. DNA change: Variation at DNA-level to coding DNA Reference Sequence. ex: c.7C>T, c.-15T>A, c.77+1G>A, 78-1G>A, c.*2T>A Protein: Variation at protein level. dbSNP ID: rs# Race: Reference: Reference describing the variation, "Submitted:" indicating that the mutation was submitted directly to this database. Ethnic origin: Ethnic origin of patient

CCHMC Molecular Genetics Laboratory Mutation Database

caspase 10, apoptosis-related cysteine peptidase (CASP10)