NM_001130438.3(SPTAN1):c.5433C>G (p.His1811Gln) AND Early infantile epileptic encephalopathy with suppression bursts
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Jun 23, 2023
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV002549705.3
Allele description [Variation Report for NM_001130438.3(SPTAN1):c.5433C>G (p.His1811Gln)]
NM_001130438.3(SPTAN1):c.5433C>G (p.His1811Gln)
Condition(s)
-
CR419826 XGC-tailbud Xenopus tropicalis cDNA clone TTbA027a07 5', mRNA sequence
CR419826 XGC-tailbud Xenopus tropicalis cDNA clone TTbA027a07 5', mRNA sequencegi|48913234|gnl|dbEST|23783828|emb| 826.1|Nucleotide
-
AGENCOURT_10509587 NICHD_XGC_Emb1 Xenopus laevis cDNA clone IMAGE:6633696 5', mR...
AGENCOURT_10509587 NICHD_XGC_Emb1 Xenopus laevis cDNA clone IMAGE:6633696 5', mRNA sequencegi|24090219|gnl|dbEST|14400107|gb|B 05.1|Nucleotide
-
AGENCOURT_13844887 NICHD_XGC_Tad2 Xenopus laevis cDNA clone IMAGE:6933623 5', mR...
AGENCOURT_13844887 NICHD_XGC_Tad2 Xenopus laevis cDNA clone IMAGE:6933623 5', mRNA sequencegi|30185920|gnl|dbEST|17729688|gb|C 28.1|Nucleotide
-
dad69h02.y1 Wellcome CRC pCS107 tropicalis egg Xenopus tropicalis cDNA clone IMA...
dad69h02.y1 Wellcome CRC pCS107 tropicalis egg Xenopus tropicalis cDNA clone IMAGE:4464987 5' similar to TR:Q9UGK5 Q9UGK5 HYPOTHETICAL 58.3 KD PROTEIN, mRNA sequencegi|14186611|gnl|dbEST|8590085|gb|BG 1.1|Nucleotide
-
AGENCOURT_74296880 NICHD_XGC_tail_m Xenopus laevis cDNA clone IMAGE:8544107 5', ...
AGENCOURT_74296880 NICHD_XGC_tail_m Xenopus laevis cDNA clone IMAGE:8544107 5', mRNA sequencegi|92068381|gnl|dbEST|37998554|gb|E 56.1|Nucleotide
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See more...Assertion and evidence details
Last Updated: Sep 29, 2024