NM_000500.9(CYP21A2):c.1201A>G (p.Arg401Gly) AND Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- May 24, 2019
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV000984576.2
Allele description [Variation Report for NM_000500.9(CYP21A2):c.1201A>G (p.Arg401Gly)]
NM_000500.9(CYP21A2):c.1201A>G (p.Arg401Gly)
Condition(s)
- Name:
- Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency
- Synonyms:
- Congenital adrenal hyperplasia due to 21-hydroxylase deficiency; CYP21 deficiency; 21-Hydroxylase-Deficient Congenital Adrenal Hyperplasia
- Identifiers:
- MONDO: MONDO:0008728; MedGen: C2936858; Orphanet: 90794; OMIM: 201910
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PREDICTED: Mus musculus transcriptional adaptor 2B (Tada2b), transcript variant ...
PREDICTED: Mus musculus transcriptional adaptor 2B (Tada2b), transcript variant X1, mRNAgi|1720413132|ref|XM_030254386.1|Nucleotide
-
D16Ium59 DNA segment, Chr 16, Indiana University Medical 59 [Mus musculus]
D16Ium59 DNA segment, Chr 16, Indiana University Medical 59 [Mus musculus]Gene ID:27906Gene
-
D16Ium59 AND (alive[prop]) (1)
Gene
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Last Updated: Nov 11, 2023