NM_001032221.6(STXBP1):c.25delinsCT (p.Val9fs) AND Developmental and epileptic encephalopathy, 4
- Germline classification:
- Pathogenic (1 submission)
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV001568361.2
Allele description [Variation Report for NM_001032221.6(STXBP1):c.25delinsCT (p.Val9fs)]
NM_001032221.6(STXBP1):c.25delinsCT (p.Val9fs)
Condition(s)
-
iroquois-class homeodomain protein IRX-5 [Anomalospiza imberbis]
iroquois-class homeodomain protein IRX-5 [Anomalospiza imberbis]gi|2797700214|ref|XP_068058839.1|Protein
-
wingless, partial [Promyopias silvestrii]
wingless, partial [Promyopias silvestrii]gi|1409965156|gb|AWX49308.1|Protein
-
RecName: Full=Agouti-signaling protein; Short=ASP; AltName: Full=Agouti switch p...
RecName: Full=Agouti-signaling protein; Short=ASP; AltName: Full=Agouti switch protein; Flags: Precursorgi|146286041|sp|A1YL78.1|ASIP_CALGEProtein
-
ND3 [Pseudecheneis sulcata]
ND3 [Pseudecheneis sulcata]Gene ID:16016858Gene
-
ATP6 [Cobitis sinensis]
ATP6 [Cobitis sinensis]Gene ID:3562198Gene
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Last Updated: Jun 23, 2024