NM_001042432.2(CLN3):c.1048del (p.Leu350fs) AND Neuronal ceroid lipofuscinosis
- Germline classification:
- Pathogenic (1 submission)
- Last evaluated:
- Jan 28, 2023
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV001853040.4
Allele description [Variation Report for NM_001042432.2(CLN3):c.1048del (p.Leu350fs)]
NM_001042432.2(CLN3):c.1048del (p.Leu350fs)
Condition(s)
-
cell division protein FtsZ [Chlorobium phaeobacteroides BS1]
cell division protein FtsZ [Chlorobium phaeobacteroides BS1]gi|189501422|gnl|REF_jgi|Cphamn1_25 f|YP_001960892.1|Protein
-
PREDICTED: Homo sapiens phosphoribosylformylglycinamidine synthase (PFAS), trans...
PREDICTED: Homo sapiens phosphoribosylformylglycinamidine synthase (PFAS), transcript variant X2, mRNAgi|2217312503|ref|XM_047436295.1|Nucleotide
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See more...Assertion and evidence details
Last Updated: Sep 29, 2024