NM_152564.5(VPS13B):c.11045-6C>T AND Cohen syndrome
- Germline classification:
- Likely benign (1 submission)
- Last evaluated:
- Oct 4, 2022
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV001444853.14
Allele description [Variation Report for NM_152564.5(VPS13B):c.11045-6C>T]
NM_152564.5(VPS13B):c.11045-6C>T
Condition(s)
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842597 (0)
PopSet
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PREDICTED: Sus scrofa sorbin and SH3 domain containing 1 (SORBS1), transcript va...
PREDICTED: Sus scrofa sorbin and SH3 domain containing 1 (SORBS1), transcript variant X33, mRNAgi|1191839491|ref|XM_021074159.1|Nucleotide
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Homo sapiens mitochondrial trans-2-enoyl-CoA reductase (MECR), RefSeqGene on chr...
Homo sapiens mitochondrial trans-2-enoyl-CoA reductase (MECR), RefSeqGene on chromosome 1; nuclear gene for mitochondrial productgi|2310187352|ref|NG_053058.2|Nucleotide
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PREDICTED: Danio rerio creatine kinase, mitochondrial 2b (sarcomeric) (ckmt2b), ...
PREDICTED: Danio rerio creatine kinase, mitochondrial 2b (sarcomeric) (ckmt2b), transcript variant X1, mRNAgi|1207176028|ref|XM_005165533.4|Nucleotide
-
ATP-binding cassette sub-family A member 13 isoform X14 [Homo sapiens]
ATP-binding cassette sub-family A member 13 isoform X14 [Homo sapiens]gi|2462612526|ref|XP_054213306.1|Protein
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Last Updated: Oct 13, 2024