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SNV:1-26190820-C-A (GRCh38)
Dataset
- gnomAD v3.1.2
- GRCh38
- gnomAD v4.1.0807,162 samples
- gnomAD v4.1.0 (non-UKB)314,392 samples
- gnomAD v3.1.276,156 samples
- gnomAD v3.1.2 (non-cancer)74,023 samples
- gnomAD v3.1.2 (non-neuro)67,442 samples
- gnomAD v3.1.2 (non-v2)57,344 samples
- gnomAD v3.1.2 (non-TOPMed)40,433 samples
- gnomAD v3.1.2 (controls/biobanks)16,465 samples
- GRCh37
- gnomAD v2.1.1141,456 samples
- gnomAD v2.1.1 (non-TOPMed)135,743 samples
- gnomAD v2.1.1 (non-cancer)134,187 samples
- gnomAD v2.1.1 (non-neuro)114,704 samples
- gnomAD v2.1.1 (controls)60,146 samples
| Genomes | |
|---|---|
| Filters | Pass |
| Allele Count | 10 |
| Allele Number | 152084 |
| Allele Frequency | 0.00006575 |
| Grpmax Filtering AF (95% confidence) | 0.0001306 African/African American |
| Number of homozygotes | 0 |
| Mean depth of coverage | 30.4 |
External Resources
Feedback
Report an issue with this variantGenetic Ancestry Group Frequencies
- gnomAD
- HGDP
- 1KG
- Local Ancestry
| 10 | 41386 | 0 | 0.0002416 | ||
| 0 | 68004 | 0 | 0.000 | ||
| 0 | 10626 | 0 | 0.000 | ||
| 0 | 15286 | 0 | 0.000 | ||
| 0 | 912 | 0 | 0.000 | ||
| 0 | 5170 | 0 | 0.000 | ||
| 0 | 316 | 0 | 0.000 | ||
| 0 | 4828 | 0 | 0.000 | ||
| 0 | 3468 | 0 | 0.000 | ||
| 0 | 2088 | 0 | 0.000 | ||
| XX | 5 | 77794 | 0 | 0.00006427 | |
| XY | 5 | 74290 | 0 | 0.00006730 | |
| Total | 10 | 152084 | 0 | 0.00006575 | |
Include:
Related Variants
Nearby Variants
Ensembl Variant Effect Predictor
This variant falls on 3 transcripts in 1 gene.
Note The gene symbols shown below are provided by VEP and may differ from the symbol shown on gene pages.
missense
CATSPER4
- ENST00000456354.7MANE Select transcript for CATSPER4
- HGVSp
- p.Gln65Lys
- Domains
- PTHR47077 (PANTHER)
- Polyphen
- benign
- SIFT
- tolerated
- ENST00000338855.6
- HGVSp
- p.Gln65Lys
- Domains
- PTHR47077 (PANTHER)
- Polyphen
- benign
- SIFT
- tolerated
- ENST00000518899.5
- HGVSp
- p.Gln65Lys
- Polyphen
- benign
- SIFT
- tolerated
- ENST00000456354.7
In Silico Predictors
Transcript-specific predictors SIFT and Polyphen are listed with Variant Effect Predictor annotations.
- REVEL: 0.215
- CADD: 0.0680
- SpliceAI: 0.00 (no_consequence)
- PrimateAI: 0.208
Genomic Constraint of Surrounding 1kb Region
Genomic constraint values displayed are for the region: 1-26190000-26191000
Read more about this constraint.
| Expected | Observed | Constraint |
|---|---|---|
| 254.4 | 202 | Z = 3.29 o/e = 0.79 |
Z Score
View the genomic constraint values for the 40kb region surrounding this variant: 1-26170820-26210820
ClinVar
- ClinVar Variation ID
- 2597462
- Conditions
- not specified
- Germline classification
- Uncertain significance
- Review status
- criteria provided, single submitter (1 star)
- Last evaluated
- July 5, 2023
or find more information on the ClinVar website. Data displayed here is from ClinVar's February 1, 2025 release.
Age Distribution
- Exome
- Genome
- Variant carriers
- All individuals
Genotype Quality Metrics
- Genotype quality
- Depth
- Allele balance for heterozygotes
- Exome
- Genome
- Variant carriers
- All individuals
Site Quality Metrics
- Metric distribution
- All metric values
- Exome
- Genome
Value: 8.047e+3 (genome samples)
Site quality approximation for all variants with 0.00005 <= AF < 0.0001.
Read Data
Always load read data