Variant #0001399158 (NC_000017.10:g.35346728C>G, NC_000017.10(NM_012138.3):c.1314+18C>G (AATF))

Individual ID 00000052
Chromosome 17
Allele Unknown
Affects function (as reported) Not classified
Affects function (by curator) Not classified
DNA change (genomic) (Relative to hg19 / GRCh37) g.35346728C>G
Reference -
DB-ID AATF_000008
Frequency -
Variant remarks -
Average frequency (gnomAD v.2.1.1) Retrieve
Owner LOVD
Database submission license No license selected
Created by LOVD
Date created 2016-08-25 11:52:55 +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     
AATF NM_012138.3 ./. - c.1314+18C>G 1314 r.(=) p.(=) - intron 18



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Genes screened     

Variants found     

Owner     
0000000064 DNA SEQ-NG - - 51153 LOVD