Variant #0001163982 (NC_000004.11:g.103561052T>C, NC_000004.11(NM_005908.3):c.1870-38A>G (MANBA))

Individual ID 00000047
Chromosome 4
Allele Unknown
Affects function (as reported) Not classified
Affects function (by curator) Not classified
DNA change (genomic) (Relative to hg19 / GRCh37) g.103561052T>C
Reference -
DB-ID MANBA_000035
Frequency -
Variant remarks -
Average frequency (gnomAD v.2.1.1) 4.0E-5 View details
Owner LOVD
Database submission license No license selected
Created by LOVD
Date created 2016-08-24 22:42:41 +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     
MANBA NM_005908.3 ./. - c.1870-38A>G 1870 r.(=) p.(=) - intron 38



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Genes screened     

Variants found     

Owner     
0000000059 DNA SEQ-NG - - 51062 LOVD