NM_006493.4(CLN5):c.498T>C (p.Phe166=) AND Neuronal ceroid lipofuscinosis
- Germline classification:
- Likely benign (1 submission)
- Last evaluated:
- Apr 25, 2022
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV003044586.3
Allele description [Variation Report for NM_006493.4(CLN5):c.498T>C (p.Phe166=)]
NM_006493.4(CLN5):c.498T>C (p.Phe166=)
Condition(s)
-
S41 family peptidase [Sphingomonas aliaeris]
S41 family peptidase [Sphingomonas aliaeris]gi|1958864160|gnl|PRJNA649412|H5J25 5|gb|QQV76591.1|Protein
Your browsing activity is empty.
Activity recording is turned off.
See more...Assertion and evidence details
Last Updated: Sep 29, 2024