NM_004408.4(DNM1):c.416G>A (p.Gly139Glu) AND Developmental and epileptic encephalopathy, 31A
- Germline classification:
- Pathogenic (1 submission)
- Last evaluated:
- Apr 20, 2023
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV003223410.2
Allele description [Variation Report for NM_004408.4(DNM1):c.416G>A (p.Gly139Glu)]
NM_004408.4(DNM1):c.416G>A (p.Gly139Glu)
Condition(s)
-
wingless, partial [Odontomachus haematodus]
wingless, partial [Odontomachus haematodus]gi|2028221630|gb|QTZ25368.1|Protein
-
Rx protein [Solanum tuberosum]
Rx protein [Solanum tuberosum]gi|5524754|emb|CAB50786.1|Protein
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See more...Assertion and evidence details
Last Updated: Aug 18, 2024