NM_001113378.2(FANCI):c.601A>G (p.Met201Val) AND Inborn genetic diseases
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Sep 27, 2021
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV002528304.2
Allele description [Variation Report for NM_001113378.2(FANCI):c.601A>G (p.Met201Val)]
NM_001113378.2(FANCI):c.601A>G (p.Met201Val)
Condition(s)
- Name:
- Inborn genetic diseases
- Identifiers:
- MeSH: D030342; MedGen: C0950123
-
57470156[uid] AND (alive[prop]) (0)
Gene
-
AW171965 (0)
SRA
-
Leptographium davidsonii strain CMW 3095 translation elongation factor 1-alpha g...
Leptographium davidsonii strain CMW 3095 translation elongation factor 1-alpha gene, partial cdsgi|1767853080|gb|MN517732.1|Nucleotide
-
Rattus norvegicus Cd68 molecule, mRNA (cDNA clone MGC:114377 IMAGE:7368498), com...
Rattus norvegicus Cd68 molecule, mRNA (cDNA clone MGC:114377 IMAGE:7368498), complete cdsgi|71051782|gb|BC098931.1|Nucleotide
-
PUTATIVE PSEUDOGENE: RecName: Full=Putative caspase recruitment domain-containin...
PUTATIVE PSEUDOGENE: RecName: Full=Putative caspase recruitment domain-containing protein 17P; AltName: Full=Caspase-1 inhibitor INCA; AltName: Full=Inhibitory caspase recruitment domain proteingi|74724394|sp|Q5XLA6.1|CAR17_HUMANProtein
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Last Updated: Sep 29, 2024