Variant #0002013964 (NC_000002.11:g.71740897C>A, NM_001130455.1:c.512C>A (DYSF))

Individual ID 00000064
Chromosome 2
Allele Unknown
Affects function (as reported) Not classified
Affects function (by curator) Not classified
DNA change (genomic) (Relative to hg19 / GRCh37) g.71740897C>A
Reference -
DB-ID DYSF_000126 See all 2 reported entries
Frequency -
Variant remarks -
Average frequency (gnomAD v.2.1.1) 0.01012 View details
Owner LOVD
Database submission license No license selected
Created by LOVD
Date created 2016-08-25 06:26:12 +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     
DYSF NM_001130455.1 ./. - c.512C>A 512 r.(?) p.(Ala171Glu) - missense -
DYSF NM_001130976.1 ./. - c.509C>A 509 r.(?) p.(Ala170Glu) - missense -
DYSF NM_001130977.1 ./. - c.509C>A 509 r.(?) p.(Ala170Glu) - missense -
DYSF NM_001130978.1 ./. - c.509C>A 509 r.(?) p.(Ala170Glu) - missense -
DYSF NM_001130979.1 ./. - c.602C>A 602 r.(?) p.(Ala201Glu) - missense -
DYSF NM_001130980.1 ./. - c.602C>A 602 r.(?) p.(Ala201Glu) - missense -
DYSF NM_001130981.1 ./. - c.602C>A 602 r.(?) p.(Ala201Glu) - missense -
DYSF NM_001130982.1 ./. - c.605C>A 605 r.(?) p.(Ala202Glu) - missense -
DYSF NM_001130983.1 ./. - c.512C>A 512 r.(?) p.(Ala171Glu) - missense -
DYSF NM_001130984.1 ./. - c.512C>A 512 r.(?) p.(Ala171Glu) - missense -
DYSF NM_001130985.1 ./. - c.605C>A 605 r.(?) p.(Ala202Glu) - missense -
DYSF NM_001130986.1 ./. - c.512C>A 512 r.(?) p.(Ala171Glu) - missense -
DYSF NM_001130987.1 ./. - c.605C>A 605 r.(?) p.(Ala202Glu) - missense -
DYSF NM_003494.3 ./. - c.509C>A 509 r.(?) p.(Ala170Glu) - missense -



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Genes screened     

Variants found     

Owner     
0000000076 DNA SEQ-NG - - 51294 LOVD