NM_000098.3(CPT2):c.1444_1447del (p.Thr482fs) AND Encephalopathy, acute, infection-induced, susceptibility to, 4
- Germline classification:
- Pathogenic (1 submission)
- Last evaluated:
- Apr 28, 2023
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV003475737.1
Allele description [Variation Report for NM_000098.3(CPT2):c.1444_1447del (p.Thr482fs)]
NM_000098.3(CPT2):c.1444_1447del (p.Thr482fs)
Condition(s)
-
Homo sapiens solute carrier family 25 member 17 (SLC25A17), transcript variant 4...
Homo sapiens solute carrier family 25 member 17 (SLC25A17), transcript variant 4, non-coding RNAgi|1890389234|ref|NR_104235.2|Nucleotide
-
Homo sapiens BAC clone RP11-407H18 from 4, complete sequence
Homo sapiens BAC clone RP11-407H18 from 4, complete sequencegi|12740538|gnl|WUGSC|RP11-407H18|g 22267.8|AC022267Nucleotide
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See more...Assertion and evidence details
Last Updated: Sep 29, 2024