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ExomesGenomesTotal
Filters PassNo variant
Allele Count101
Allele Number14617941521901613984
Allele Frequency6.841e-76.196e-7
Grpmax Filtering AF
(95% confidence)
Number of homozygotes00

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Genetic Ancestry Group Frequencies

1118000408.475e-7
07501000.000
06003000.000
02960600.000
04484000.000
06393200.000
0606200.000
091200.000
09107800.000
06251000.000
XX181238400.000001231
XY080160000.000
Total1161398406.196e-7
Include:

Related Variants

Liftover

The following GRCh37 variant lifts over to this variant:

Variant Effect Predictor

This variant falls on 11 transcripts in 1 gene.

Note The gene symbols shown below are provided by VEP and may differ from the symbol shown on gene pages.

  1. splice region

    1. NDUFV1

      1. ENST00000322776.11
        MANE Select transcript for NDUFV1
        HGVSp
        p.Glu387Glu
        Domains
      2. ENST00000415352.6
        HGVSp
        p.Glu380Glu
        Domains
      3. ENST00000529927.5
        HGVSp
        p.Glu378Glu
        Domains
  2. intron

    1. NDUFV1

      1. ENST00000527355.5
        HGVSc
        c.370-143G>A
  3. non coding transcript exon

    1. NDUFV1

      1. ENST00000534352.1
        HGVSc
        n.259G>A

In Silico Predictors

  • CADD: 12.4
  • SpliceAI: 0.00
  • Pangolin: 0.0100
  • phyloP: 2.86
Note For more detailed and up to date SpliceAI and Pangolin predictions, please visit our SpliceAI Lookup browser

Genomic Constraint of Surrounding 1kb Region

Genomic constraint values displayed are for the region: 11-67611000-67612000

Read more about this constraint.

ExpectedObservedConstraint
294.5222Z = 4.22
o/e = 0.75
Z Score not constrainedconstrained2.184.0

View the genomic constraint values for the 40kb region surrounding this variant: 11-67591977-67631977

Age Distribution

  • Exome
  • Genome
  • Variant carriers
  • All individuals
< 3030-3535-4040-4545-5050-5555-6060-6565-7070-7575-80> 80Age01Variant carriers010.0K20.0K30.0K40.0K50.0K60.0K70.0K80.0K90.0K100KAll individuals

Genotype Quality Metrics

  • Exome
  • Genome
  • Variant carriers
  • All individuals
0-510-1520-2530-3540-4550-5560-6570-7580-8590-95> 100Genotype quality01Variant carriers050.0K100K150K200K250K300K350K400KAll individuals

Site Quality Metrics

  • Exome
  • Genome
1e11e1.51e21e2.51e31e3.51e41e4.51e51e5.51e61e6.51e71e7.51e81e8.51e91e9.51e10SiteQuality0500K1.00M1.50M2.00M2.50M3.00M3.50M4.00M4.50M5.00MExome variants7.400e+1

Value: 7.400e+1 (exome samples)

Site quality approximation for all singleton variants.

Note: These are site-level quality metrics, they may be unpredictable for multi-allelic sites.

Read Data


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