NM_005199.5(CHRNG):c.397del (p.Ser133fs) AND not provided
- Germline classification:
- Pathogenic (2 submissions)
- Last evaluated:
- Nov 28, 2023
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV000497452.10
Allele description [Variation Report for NM_005199.5(CHRNG):c.397del (p.Ser133fs)]
NM_005199.5(CHRNG):c.397del (p.Ser133fs)
Condition(s)
- Synonyms:
- none provided
- Identifiers:
- MedGen: C3661900
-
RecName: Full=BTB/POZ domain-containing protein 17; AltName: Full=Galectin-3-bin...
RecName: Full=BTB/POZ domain-containing protein 17; AltName: Full=Galectin-3-binding protein-like; Flags: Precursorgi|190457780|sp|A6NE02.1|BTBDH_HUMAProtein
-
Homo sapiens mitochondrial glutathione reductase (GRD1) mRNA, complete cds; nucl...
Homo sapiens mitochondrial glutathione reductase (GRD1) mRNA, complete cds; nuclear gene for mitochondrial productgi|7158871|gb|AF228704.1|Nucleotide
-
UI-R-CA0-bme-d-10-0-UI.s1 UI-R-CA0 Rattus norvegicus cDNA clone UI-R-CA0-bme-d-1...
UI-R-CA0-bme-d-10-0-UI.s1 UI-R-CA0 Rattus norvegicus cDNA clone UI-R-CA0-bme-d-10-0-UI 3', mRNA sequencegi|11398479|gnl|dbEST|6871346|gb|BF 4.1|Nucleotide
Your browsing activity is empty.
Activity recording is turned off.
See more...Assertion and evidence details
Last Updated: Sep 29, 2024