NM_001395413.1(POR):c.975C>T (p.Ala325=) AND Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency
- Germline classification:
- Conflicting interpretations of pathogenicity (2 submissions)
- Last evaluated:
- Jan 31, 2024
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV001088455.12
Allele description [Variation Report for NM_001395413.1(POR):c.975C>T (p.Ala325=)]
NM_001395413.1(POR):c.975C>T (p.Ala325=)
Condition(s)
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txid498019[orgn] AND "isolate ISRAEL/TASMC/2015/201"[All Fields] (2)
Nucleotide
-
txid654870[Organism:noexp] (2)
Protein
-
Acinetobacter sp. AK-P1 16S ribosomal RNA gene, partial sequence
Acinetobacter sp. AK-P1 16S ribosomal RNA gene, partial sequencegi|298501456|gb|HM359120.1|Nucleotide
-
Protein Links for Conserved Domains (Select 214932) (10183)
Protein
-
filamentous fungus deletion strain, glucose, rep1
filamentous fungus deletion strain, glucose, rep1GEO DataSets
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See more...Assertion and evidence details
Last Updated: Feb 28, 2024