Date post: | 14-Apr-2017 |
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Known unknowns
20 Billion new variants
will be observed in 5yrs
150,000,000
VARIANTS OBSERVED
2015
VARIANTS WE UNDERSTAND
p Variant Explorer
GRCh37:chr7:117199644-117199647>ADate Generated - 2012 / 12 / 08 12:01:45PM EST
Rare VariantCLINICAL EVIDENCE
Reported Pathogenic
F F
POPULATION GENETICS
<1% GMAF
EFFECT PREDICTION
Inframe deletion
VARIANT IDENTIFICATION
7
CHR
Deletion
TYPE
3bp
SIZE
117,199,647117,199,644
START STOP
ATCT A
REF ALT
NG_016465.3:g.98809_98811delCTTNC_000007.13:g.117199646_117199648delCTTNC_000007.14:g.117559592_117559594delCTTNG_016465.1:g.84630_84632delCTT
CODING DNA PROTEIN GENOMIC
NM_000492.3:c.1521_1523delCTTXM_006715842.1:c.1845_1847delCTT
NP_000483.3:p.Phe508delNP_000483.3:p.Phe508delPheXP_006715905.1:p.Phe616del
HGVS NM_000492.3:c.1521_1523delCTT
117,199,667
117,199,644
117,199,647
117,199,624
3’ ALIGNMENT5’ ALIGNMENT
Better way to explore the genome