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)
-
hypothetical protein LV162_005174 [Aspergillus fumigatus]
hypothetical protein LV162_005174 [Aspergillus fumigatus]gi|2477723158|gb|KAJ8159787.1||gnl| ALJVH|g5174.t1.cdsProtein
-
Heteragrion sp. MOLC-2015 16S ribosomal RNA gene, partial sequence; mitochondria...
Heteragrion sp. MOLC-2015 16S ribosomal RNA gene, partial sequence; mitochondrialgi|936626670|gb|KR261034.1|Nucleotide
-
elongation factor 1 alpha, partial [Heteragrion sp. HH-2006]
elongation factor 1 alpha, partial [Heteragrion sp. HH-2006]gi|108945955|gb|ABG23504.1|Protein
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See more...Assertion and evidence details
Last Updated: Dec 30, 2023