NM_001165963.4(SCN1A):c.335C>T (p.Thr112Ile) AND Early infantile epileptic encephalopathy with suppression bursts
- Germline classification:
- Likely pathogenic (1 submission)
- Last evaluated:
- Dec 18, 2022
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV001854244.5
Allele description [Variation Report for NM_001165963.4(SCN1A):c.335C>T (p.Thr112Ile)]
NM_001165963.4(SCN1A):c.335C>T (p.Thr112Ile)
Condition(s)
-
db89c03.y1 Wellcome CRC pSK animal cap Xenopus laevis cDNA clone IMAGE:3380164 5...
db89c03.y1 Wellcome CRC pSK animal cap Xenopus laevis cDNA clone IMAGE:3380164 5' similar to TR:O00494 O00494 PROTEIN PHOSPHATASE 2A DELTA, mRNA sequencegi|9726747|gnl|dbEST|5700213|gb|BE5 .1|Nucleotide
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See more...Assertion and evidence details
Last Updated: Sep 29, 2024