NM_172107.4(KCNQ2):c.922C>T (p.Pro308Ser) AND Developmental and epileptic encephalopathy, 7
- Germline classification:
- Likely pathogenic (1 submission)
- Last evaluated:
- Dec 13, 2021
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV002288327.2
Allele description [Variation Report for NM_172107.4(KCNQ2):c.922C>T (p.Pro308Ser)]
NM_172107.4(KCNQ2):c.922C>T (p.Pro308Ser)
Condition(s)
-
602132 (1)
OMIM
-
proline-rich 28 kDa antigen [Mycolicibacterium smegmatis MC2 155]
proline-rich 28 kDa antigen [Mycolicibacterium smegmatis MC2 155]gi|118173122|gnl|tigr|MSMEG_6919|gb 4018.1|Protein
-
Homo sapiens mRNA; cDNA DKFZp686K2231 (from clone DKFZp686K2231)
Homo sapiens mRNA; cDNA DKFZp686K2231 (from clone DKFZp686K2231)gi|34366918|emb|BX647761.1|Nucleotide
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Last Updated: May 7, 2024