NM_000475.5(NR0B1):c.698C>T (p.Ala233Val) AND multiple conditions
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Jan 13, 2024
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV003786706.1
Allele description
NM_000475.5(NR0B1):c.698C>T (p.Ala233Val)
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
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long-chain-fatty-acid--CoA ligase 6 isoform k [Homo sapiens]
long-chain-fatty-acid--CoA ligase 6 isoform k [Homo sapiens]gi|2230395553|ref|NP_001392409.1|Protein
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long-chain-fatty-acid--CoA ligase 6 isoform j [Homo sapiens]
long-chain-fatty-acid--CoA ligase 6 isoform j [Homo sapiens]gi|2230395578|ref|NP_001392407.1|Protein
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Homo sapiens acyl-CoA synthetase long chain family member 6 (ACSL6), transcript ...
Homo sapiens acyl-CoA synthetase long chain family member 6 (ACSL6), transcript variant 13, mRNAgi|2230395389|ref|NM_001405481.1|Nucleotide
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See more...Assertion and evidence details
Last Updated: Mar 5, 2024