NM_018941.4(CLN8):c.204del (p.Thr69fs) AND Neuronal ceroid lipofuscinosis 8
- Germline classification:
- Likely pathogenic (1 submission)
- Last evaluated:
- Feb 27, 2018
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV000673003.1
Allele description [Variation Report for NM_018941.4(CLN8):c.204del (p.Thr69fs)]
NM_018941.4(CLN8):c.204del (p.Thr69fs)
Condition(s)
-
Acute kidney injury
Acute kidney injuryMedGen
-
C2609414[conceptid] (1)
MedGen
-
PREDICTED: Homo sapiens suppressor of cytokine signaling 6 (SOCS6), transcript v...
PREDICTED: Homo sapiens suppressor of cytokine signaling 6 (SOCS6), transcript variant X7, mRNAgi|2217318059|ref|XM_047437940.1|Nucleotide
-
Homo sapiens erythrocyte membrane protein band 4.1 like 3 (EPB41L3), transcript ...
Homo sapiens erythrocyte membrane protein band 4.1 like 3 (EPB41L3), transcript variant 19, mRNAgi|1862434445|ref|NM_001384695.1|Nucleotide
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Last Updated: Mar 26, 2023