NM_001003800.2(BICD2):c.1489_1491delinsTCA (p.Glu497Ser) AND Spinal muscular atrophy, lower extremity-predominant, 2b, prenatal onset, autosomal dominant
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Jun 14, 2023
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV003408265.1
Allele description [Variation Report for NM_001003800.2(BICD2):c.1489_1491delinsTCA (p.Glu497Ser)]
NM_001003800.2(BICD2):c.1489_1491delinsTCA (p.Glu497Ser)
Condition(s)
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Piper arboreum voucher Aburri Botanical Garden 042 trnL-trnF intergenic spacer, ...
Piper arboreum voucher Aburri Botanical Garden 042 trnL-trnF intergenic spacer, partial sequence; plastidgi|185487879|gb|EU519615.1|Nucleotide
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Piper arboreum voucher Aburri Botanical Garden 042 NADH dehydrogenase F subunit-...
Piper arboreum voucher Aburri Botanical Garden 042 NADH dehydrogenase F subunit-like (ndhF) gene, partial sequence; plastidgi|186701536|gb|EU519705.1|Nucleotide
-
Homo sapiens MYD88 innate immune signal transduction adaptor (MYD88), transcript...
Homo sapiens MYD88 innate immune signal transduction adaptor (MYD88), transcript variant 1, mRNAgi|1478051049|ref|NM_001172567.2|Nucleotide
-
forkhead box protein O6 isoform X2 [Chlorocebus sabaeus]
forkhead box protein O6 isoform X2 [Chlorocebus sabaeus]gi|1938808399|ref|XP_007977400.2|Protein
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ubiquitin carboxyl-terminal hydrolase CYLD isoform 2 [Homo sapiens]
ubiquitin carboxyl-terminal hydrolase CYLD isoform 2 [Homo sapiens]gi|1819229371|ref|NP_001365674.1|Protein
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Last Updated: May 1, 2024