NM_000543.5(SMPD1):c.122_128del (p.Leu41fs) AND Niemann-Pick disease, type A
- Germline classification:
- Likely pathogenic (1 submission)
- Last evaluated:
- Sep 13, 2023
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV003474046.1
Allele description [Variation Report for NM_000543.5(SMPD1):c.122_128del (p.Leu41fs)]
NM_000543.5(SMPD1):c.122_128del (p.Leu41fs)
Condition(s)
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Cryptococcus neoformans var. grubii A2-102-5, whole genome shotgun sequencing pr...
Cryptococcus neoformans var. grubii A2-102-5, whole genome shotgun sequencing projectgi|1218376709|gb|AMLI00000000.1|AML 0000Nucleotide
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Kwoniella newhampshirensis strain:CBS 13917
Kwoniella newhampshirensis strain:CBS 13917Kwoniella newhampshirensis strain:CBS 13917 RefSeq Genome sequencing and assemblyBioProject
-
Heteragrion sp. HH-2006 elongation factor 1 alpha gene, partial cds
Heteragrion sp. HH-2006 elongation factor 1 alpha gene, partial cdsgi|108945954|gb|DQ642971.1|Nucleotide
-
4930445N08Rik RIKEN cDNA 4930445N08 gene [Mus musculus]
4930445N08Rik RIKEN cDNA 4930445N08 gene [Mus musculus]Gene ID:78122Gene
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See more...Assertion and evidence details
Last Updated: Dec 30, 2023