rs3937033
Variant names:
Your query was ambiguous. Multiple possible variants found:
Variant summary
Our verdict is Benign. The variant received -8 ACMG points: 0P and 8B. BA1
No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar.
Frequency
Mitomap GenBank:
𝑓 0.62 ( AC: 38046 )
Consequence
Unknown
Scores
Clinical Significance
Not reported in ClinVar
No linked disesase in Mitomap
Conservation
PhyloP100: -0.225
Publications
16 publications found
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ACMG classification
Our verdict: Benign. The variant received -8 ACMG points.
BA1
High frequency in mitomap database: 0.62229997
Transcripts
RefSeq
| Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | MANE | Protein | UniProt |
|---|
Ensembl
| Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | TSL | MANE | Protein | Appris | UniProt |
|---|
Frequencies
Mitomap GenBank
AF:
AC:
38046
Gnomad homoplasmic
AF:
AC:
35648
AN:
54238
Gnomad heteroplasmic
AF:
AC:
83
AN:
54238
Mitomap
No disease associated.
ClinVar
Not reported inComputational scores
Source:
Name
Calibrated prediction
Score
Prediction
PhyloP100
Publications
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