Variant #0002066745 (NC_000002.11:g.202074303T>A, NC_000002.11(NM_032977.3):c.1415+18T>A (CASP10))

Individual ID 00000065
Chromosome 2
Allele Unknown
Affects function (as reported) Not classified
Affects function (by curator) Not classified
DNA change (genomic) (Relative to hg19 / GRCh37) g.202074303T>A
Reference -
DB-ID CASP10_000024
Frequency -
Variant remarks -
Average frequency (gnomAD v.2.1.1) 0.00212 View details
Owner LOVD
Database submission license No license selected
Created by LOVD
Date created 2016-08-25 06:56:15 +02:00 (CEST)
Date last edited N/A
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

Position     

RNA change     

Protein     

PolyPhen prediction     

GVS function     

Splice distance     
CASP10 NM_001206524.1 ./. - c.1214+18T>A 1214 r.(=) p.(=) - intron 18
CASP10 NM_001206542.1 ./. - c.1286+18T>A 1286 r.(=) p.(=) - intron 18
CASP10 NM_001230.4 ./. - c.1286+18T>A 1286 r.(=) p.(=) - intron 18
CASP10 NM_032974.4 ./. - c.1415+18T>A 1415 r.(=) p.(=) - intron 18
CASP10 NM_032976.3 ./. - c.*501+18T>A 1323 r.(=) p.(=) - intron 18
CASP10 NM_032977.3 ./. - c.1415+18T>A 1415 r.(=) p.(=) - intron 18



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Genes screened     

Variants found     

Owner     
0000000077 DNA SEQ-NG - - 51202 LOVD