NM_033028.5(BBS4):c.460-2A>T AND Bardet-Biedl syndrome 4
- Germline classification:
- Likely pathogenic (1 submission)
- Last evaluated:
- Jan 4, 2024
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV004574025.1
Allele description [Variation Report for NM_033028.5(BBS4):c.460-2A>T]
NM_033028.5(BBS4):c.460-2A>T
Condition(s)
-
PREDICTED: Mus musculus Myb/SANT-like DNA-binding domain containing 2 (Msantd2),...
PREDICTED: Mus musculus Myb/SANT-like DNA-binding domain containing 2 (Msantd2), transcript variant X4, mRNAgi|1907197013|ref|XM_006510232.5|Nucleotide
-
MAG: integrase [Desulfobacteraceae bacterium 4572_35.1]
MAG: integrase [Desulfobacteraceae bacterium 4572_35.1]gi|1176209594|gb|OQY20704.1||gnl|WG X|B6I36_00205Protein
-
if34b07.y5 Melton Normalized Human Islet 4 N4-HIS 1 Homo sapiens cDNA clone IMAG...
if34b07.y5 Melton Normalized Human Islet 4 N4-HIS 1 Homo sapiens cDNA clone IMAGE:5678172 5', mRNA sequencegi|44837146|gnl|dbEST|21761098|gb|C 21.1|Nucleotide
-
cytochrome c oxidase subunit I, partial (mitochondrion) [Mugil curvidens]
cytochrome c oxidase subunit I, partial (mitochondrion) [Mugil curvidens]gi|1812585221|gb|QID59234.1|Protein
-
eukaryotic translation initiation factor 4 gamma 3 isoform X10 [Homo sapiens]
eukaryotic translation initiation factor 4 gamma 3 isoform X10 [Homo sapiens]gi|2462514887|ref|XP_054195340.1|Protein
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Last Updated: Jun 17, 2024