NM_001042681.2(RERE):c.4300T>C (p.Ser1434Pro) AND Neurodevelopmental disorder with or without anomalies of the brain, eye, or heart
- Germline classification:
- Pathogenic (1 submission)
- Last evaluated:
- Sep 12, 2017
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV000681467.1
Allele description [Variation Report for NM_001042681.2(RERE):c.4300T>C (p.Ser1434Pro)]
NM_001042681.2(RERE):c.4300T>C (p.Ser1434Pro)
Condition(s)
-
LFNG [Chrysemys picta bellii]
LFNG [Chrysemys picta bellii]Gene ID:101950276Gene
-
RecName: Full=E-selectin; AltName: Full=CD62 antigen-like family member E; AltNa...
RecName: Full=E-selectin; AltName: Full=CD62 antigen-like family member E; AltName: Full=Endothelial leukocyte adhesion molecule 1; Short=ELAM-1; AltName: Full=Leukocyte-endothelial cell adhesion molecule 2; Short=LECAM2; AltName: CD_antigen=CD62E; Flags: Precursorgi|266458|sp|Q00690.1|LYAM2_MOUSEProtein
-
CEPT1 [Serinus canaria]
CEPT1 [Serinus canaria]Gene ID:103822374Gene
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Last Updated: Apr 23, 2022