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ExomesGenomesTotal
Filters AC0No variant
Allele Count00
Allele Number239208239208
Allele Frequency0.0000.000
Grpmax Filtering AF
(95% confidence)
Number of homozygotes00
Mean depth of coverage71.432.1

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Genetic Ancestry Group Frequencies

03448600.000
011165400.000
01600200.000
01002200.000
01830000.000
01216200.000
03055800.000
0602400.000
XX010868800.000
XY013052000.000
Total023920800.000
Include:

Related Variants

Liftover

This variant lifts over to the following GRCh38 variant:

Variant Effect Predictor

This variant falls on 4 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. missense

    1. RYR1

      1. ENST00000359596.3
        Ensembl canonical transcript for RYR1
        HGVSp
        p.Ala2350Thr
        Domains
        Polyphen
        benign
      2. ENST00000355481.4
        HGVSp
        p.Ala2350Thr
        Domains
        Polyphen
        benign
      3. ENST00000360985.3
        HGVSp
        p.Ala2350Thr
        Domains
        Polyphen
        possibly_damaging

ClinVar

ClinVar Variation ID
133182
Germline classification
Pathogenic; drug response
Review status
reviewed by expert panel (3 stars)
Last evaluated
March 24, 2021

or find more information on the ClinVar website. Data displayed here is from ClinVar's November 3, 2024 release.

Age Distribution

  • Exome
  • Genome
  • Variant carriers
  • All individuals
< 3030-3535-4040-4545-5050-5555-6060-6565-7070-7575-80> 80Age01Variant carriers01.00K2.00K3.00K4.00K5.00K6.00K7.00K8.00K9.00K10.0K11.0K12.0KAll individuals

Genotype Quality Metrics

  • Exome
  • Genome
  • Variant carriers
  • All individuals
0-510-1520-2530-3540-4550-5560-6570-7580-8590-95> 100Genotype quality0123Variant carriers010.0K20.0K30.0K40.0K50.0K60.0K70.0K80.0K90.0KAll individuals

Note: This plot may include low-quality genotypes that were excluded from allele counts in the tables above.

Site Quality Metrics

  • Exome
  • Genome
1e11e1.51e21e2.51e31e3.51e41e4.51e51e5.51e61e6.51e71e7.51e81e8.51e91e9.51e10SiteQuality0100K200K300K400K500K600K700K800KExome variants6.849e+2

Value: 6.849e+2 (exome samples)

This is the site quality distribution for all exome variants with 0 <= AF < 0.00005.

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

Read Data


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