NM_000475.5(NR0B1):c.1179C>T (p.Gly393=) AND multiple conditions
- Germline classification:
- Likely benign (1 submission)
- Last evaluated:
- May 14, 2023
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV003794101.2
Allele description [Variation Report for NM_000475.5(NR0B1):c.1179C>T (p.Gly393=)]
NM_000475.5(NR0B1):c.1179C>T (p.Gly393=)
Condition(s)
- Name:
- Congenital adrenal hypoplasia, X-linked (AHC)
- Synonyms:
- ADRENAL HYPOPLASIA, CONGENITAL, WITH HYPOGONADOTROPIC HYPOGONADISM; X-linked AHC; Adrenal hypoplasia, congenital; See all synonyms [MedGen]
- Identifiers:
- MONDO: MONDO:0010264; MedGen: C0342482; OMIM: 300200
- Name:
- 46,XY sex reversal 2
- Synonyms:
- Dosage-sensitive sex reversal; 46,XY SEX REVERSAL, DAX1-RELATED; NR0B1-Related 46,XY CGD; See all synonyms [MedGen]
- Identifiers:
- MONDO: MONDO:0010226; MedGen: C1848296; OMIM: 300018
-
Homo sapiens delta/notch like EGF repeat containing (DNER), mRNA
Homo sapiens delta/notch like EGF repeat containing (DNER), mRNAgi|1519242397|ref|NM_139072.4|Nucleotide
-
Chain P, U1-A
Chain P, U1-Agi|315583607|pdb|3PGW|PProtein
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See more...Assertion and evidence details
Last Updated: Sep 29, 2024