Help us continue to improve gnomAD by taking 5 minutes to fill out our user survey.
ExomesGenomesTotal
Filters PassNo variant
Allele Count11
Allele Number251462251462
Allele Frequency0.0000039770.000003977
Grpmax Filtering AF
(95% confidence)
Number of homozygotes00
Mean depth of coverage80.429.4

External Resources

Feedback

Report an issue with this variant

Genetic Ancestry Group Frequencies

111375400.000008791
03459200.000
01625400.000
01008000.000
01838600.000
02164800.000
03061600.000
0613200.000
XX011555400.000
XY113590800.000007358
Total125146200.000003977
Include:

Related Variants

Liftover

This variant lifts over to the following GRCh38 variant:

Variant Effect Predictor

This variant falls on 2 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. FBN1

      1. ENST00000316623.5
        Ensembl canonical transcript for FBN1
        HGVSp
        p.Ala972Val
        Domains
        Polyphen
        benign
  2. intron

    1. FBN1

      1. ENST00000537463.2
        HGVSc
        c.637-15368C>T

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 quality01Variant carriers010.0K20.0K30.0K40.0K50.0K60.0K70.0K80.0K90.0K100K110K120KAll individuals

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

Site Quality Metrics

  • Exome
  • Genome
1e11e1.51e21e2.51e31e3.51e41e4.51e51e5.51e61e6.51e71e7.51e81e8.51e91e9.51e10SiteQuality0100K200K300K400K500K600K700K800K900K1.00M1.10M1.20M1.30M1.40MExome variants2.086e+3

Value: 2.086e+3 (exome samples)

This is the site quality distribution for all singleton exome variants.

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

Read Data


Always load read data