NM_031844.3(HNRNPU):c.378C>T (p.Ala126=) AND Developmental and epileptic encephalopathy, 54
- Germline classification:
- Likely benign (1 submission)
- Last evaluated:
- Jul 6, 2022
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV002740768.3
Allele description [Variation Report for NM_031844.3(HNRNPU):c.378C>T (p.Ala126=)]
NM_031844.3(HNRNPU):c.378C>T (p.Ala126=)
Condition(s)
-
mitochondrial carnitine/acylcarnitine carrier protein [Pimephales promelas]
mitochondrial carnitine/acylcarnitine carrier protein [Pimephales promelas]gi|1992434715|ref|XP_039527264.1|Protein
-
Ymc2p [Candida albicans SC5314]
Ymc2p [Candida albicans SC5314]gi|68464685|ref|XP_723420.1|Protein
-
S41 family peptidase [Algoriphagus sp. NBT04N3]
S41 family peptidase [Algoriphagus sp. NBT04N3]gi|2075689954|gnl|PRJNA603952|GYM62 0|gb|QYH37304.1|Protein
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See more...Assertion and evidence details
Last Updated: Sep 29, 2024