NM_000751.3(CHRND):c.*580C>T AND Lethal multiple pterygium syndrome
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Jan 13, 2018
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV000284461.5
Allele description [Variation Report for NM_000751.3(CHRND):c.*580C>T]
NM_000751.3(CHRND):c.*580C>T
Condition(s)
-
TSA: Sus scrofa CUFF.111958.1 transcribed RNA sequence
TSA: Sus scrofa CUFF.111958.1 transcribed RNA sequencegb|GFLN01128930.1||gnl|TSA:GFLN01|C 11958.1Nucleotide
-
Mycoplasma pneumoniae DNA, complete genome, strain: KCH-402
Mycoplasma pneumoniae DNA, complete genome, strain: KCH-402gi|1041923298|dbj|AP017318.1|Nucleotide
-
RsmZ (493)
Nucleotide
-
Homo sapiens ABCB6 gene, note: Lan-null 2383-2385del
Homo sapiens ABCB6 gene, note: Lan-null 2383-2385delgi|521969577|dbj|AB829907.1|Nucleotide
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See more...Assertion and evidence details
Last Updated: Apr 9, 2023