NM_000271.5(NPC1):c.1843C>T (p.Arg615Cys) AND Niemann-Pick disease, type C
- Germline classification:
- Likely pathogenic (1 submission)
- Last evaluated:
- Oct 28, 2019
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV001193402.1
Allele description [Variation Report for NM_000271.5(NPC1):c.1843C>T (p.Arg615Cys)]
NM_000271.5(NPC1):c.1843C>T (p.Arg615Cys)
Condition(s)
- Name:
- Niemann-Pick disease, type C (NPC)
- Identifiers:
- MONDO: MONDO:0018982; MedGen: C0220756
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JGI_XZG32940.fwd NIH_XGC_tropGas7 Xenopus tropicalis cDNA clone IMAGE:7547958 5'...
JGI_XZG32940.fwd NIH_XGC_tropGas7 Xenopus tropicalis cDNA clone IMAGE:7547958 5', mRNA sequencegi|74171855|gnl|dbEST|31312489|gb|C 98.2|Nucleotide
-
CBSU4019.fwd NICHD_XGC_tropLimb_m Xenopus tropicalis cDNA clone IMAGE:8866391 5'...
CBSU4019.fwd NICHD_XGC_tropLimb_m Xenopus tropicalis cDNA clone IMAGE:8866391 5', mRNA sequencegi|126584463|gnl|dbEST|45098888|gb| 529.1|Nucleotide
-
JGI_CAAQ11293.fwd NIH_XGC_tropHrt1 Xenopus tropicalis cDNA clone IMAGE:7731569 5...
JGI_CAAQ11293.fwd NIH_XGC_tropHrt1 Xenopus tropicalis cDNA clone IMAGE:7731569 5', mRNA sequencegi|58857792|gnl|dbEST|27724389|gb|D 56.1|Nucleotide
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See more...Assertion and evidence details
Last Updated: Sep 29, 2024