NM_000543.5(SMPD1):c.419_420del (p.Leu139_Phe140insTer) AND Niemann-Pick disease, type A
- Germline classification:
- Likely pathogenic (1 submission)
- Last evaluated:
- Jul 26, 2016
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV000410791.2
Allele description [Variation Report for NM_000543.5(SMPD1):c.419_420del (p.Leu139_Phe140insTer)]
NM_000543.5(SMPD1):c.419_420del (p.Leu139_Phe140insTer)
Condition(s)
-
SRX3942726 (1)
SRA
-
NADH dehydrogenase subunit 2 (mitochondrion) [Rhabdias bufonis]
NADH dehydrogenase subunit 2 (mitochondrion) [Rhabdias bufonis]gi|2797671856|gb|XFH18078.1|Protein
-
ACM4, partial [Asaccus gardneri]
ACM4, partial [Asaccus gardneri]gi|1064263773|gb|AOO95437.1|Protein
-
SRP041010 (12)
SRA
-
Stroke and transient ischaemic attack in over 16s: diagnosis and initial managem...
Stroke and transient ischaemic attack in over 16s: diagnosis and initial management
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See more...Assertion and evidence details
Last Updated: Jul 29, 2023