Variant #0000715088 (NC_000009.11:g.34649447T>C, NM_001142784.2:c.-2784T>C (IL11RA))

Individual ID 00000038
Chromosome 9
Allele Unknown
Affects function (as reported) Not classified
Affects function (by curator) Not classified
DNA change (genomic) (Relative to hg19 / GRCh37) g.34649447T>C
Reference -
DB-ID GALT_000007 See all 3 reported entries
Frequency -
Variant remarks -
Average frequency (gnomAD v.2.1.1) 0.00848 View details
Owner LOVD
Database submission license No license selected
Created by LOVD
Date created 2016-08-24 18:07:58 +02:00 (CEST)
Date last edited N/A
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Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

Position     

RNA change     

Protein     

PolyPhen prediction     

GVS function     

Splice distance     
GALT NM_000155.3 ./. - c.945T>C 945 r.(?) p.(=) - coding-synonymous -
IL11RA NM_001142784.2 ./. - c.-2784T>C -2784 r.(=) p.(=) - utr-5 -
GALT NM_001258332.1 ./. - c.618T>C 618 r.(?) p.(=) - coding-synonymous -



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Genes screened     

Variants found     

Owner     
0000000050 DNA SEQ-NG - - 51481 LOVD