NM_006493.4(CLN5):c.777_778del (p.Phe260fs) AND Neuronal ceroid lipofuscinosis
- Germline classification:
- Pathogenic/Likely pathogenic (2 submissions)
- Last evaluated:
- Nov 1, 2023
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV000468638.11
Allele description [Variation Report for NM_006493.4(CLN5):c.777_778del (p.Phe260fs)]
NM_006493.4(CLN5):c.777_778del (p.Phe260fs)
Condition(s)
-
Rattus norvegicus ADCYAP receptor type I (Adcyap1r1), transcript variant 2, mRNA
Rattus norvegicus ADCYAP receptor type I (Adcyap1r1), transcript variant 2, mRNAgi|396080324|ref|NM_133511.2|Nucleotide
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See more...Assertion and evidence details
Last Updated: Sep 29, 2024