NM_000543.5(SMPD1):c.901G>A (p.Val301Ile) AND Niemann-Pick disease, type A
- Germline classification:
- Likely benign (2 submissions)
- 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:
- RCV000293370.7
Allele description [Variation Report for NM_000543.5(SMPD1):c.901G>A (p.Val301Ile)]
NM_000543.5(SMPD1):c.901G>A (p.Val301Ile)
Condition(s)
-
1q42.1 (0)
OMIM
-
Homo sapiens cDNA FLJ32323 fis, clone PROST2003674
Homo sapiens cDNA FLJ32323 fis, clone PROST2003674gi|16552406|dbj|AK056885.1|Nucleotide
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See more...Assertion and evidence details
Last Updated: Sep 29, 2024