NM_006346.4(PIBF1):c.1056_1068del (p.Lys353fs) AND Joubert syndrome 33
- Germline classification:
- Likely pathogenic (1 submission)
- Last evaluated:
- Jan 25, 2023
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV002810038.3
Allele description [Variation Report for NM_006346.4(PIBF1):c.1056_1068del (p.Lys353fs)]
NM_006346.4(PIBF1):c.1056_1068del (p.Lys353fs)
Condition(s)
-
PREDICTED: histone-lysine N-methyltransferase ASHH3-like isoform X3 [Fragaria ve...
PREDICTED: histone-lysine N-methyltransferase ASHH3-like isoform X3 [Fragaria vesca subsp. vesca]gi|764506596|ref|XP_011466732.1|Protein
-
Mus musculus polymerase (DNA directed), alpha 2 (Pola2), transcript variant 1, m...
Mus musculus polymerase (DNA directed), alpha 2 (Pola2), transcript variant 1, mRNAgi|255708461|ref|NM_008893.3|Nucleotide
-
Homo sapiens chitinase, acidic, mRNA (cDNA clone MGC:54146 IMAGE:5185486), compl...
Homo sapiens chitinase, acidic, mRNA (cDNA clone MGC:54146 IMAGE:5185486), complete cdsgi|28958114|gb|BC047336.1|Nucleotide
-
Homo sapiens chemerin chemokine-like receptor 2 (CMKLR2), transcript variant 2, ...
Homo sapiens chemerin chemokine-like receptor 2 (CMKLR2), transcript variant 2, mRNAgi|1904615180|ref|NM_001098199.2|Nucleotide
-
UNVERIFIED: Thoracocarpus bissectus isolate Leal_464 psbA-trnH intergenic spacer...
UNVERIFIED: Thoracocarpus bissectus isolate Leal_464 psbA-trnH intergenic spacer region, complete sequence; chloroplastgi|2415764704|gb|OM479111.1|Nucleotide
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Last Updated: Jun 23, 2024