NM_000475.5(NR0B1):c.420G>A (p.Pro140=) AND multiple conditions
- Germline classification:
- Likely benign (1 submission)
- Last evaluated:
- Nov 13, 2023
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV003791423.1
Allele description
NM_000475.5(NR0B1):c.420G>A (p.Pro140=)
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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LOC101928214 [Homo sapiens]
LOC101928214 [Homo sapiens]Gene ID:101928214Gene
-
Chromosome neighbors for GEO Profiles (Select 44329436) (18)
GEO Profiles
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Salmonella enterica subsp. enterica serovar Muenchen strain 13V1298 NODE_20_leng...
Salmonella enterica subsp. enterica serovar Muenchen strain 13V1298 NODE_20_length_55692_cov_38.7884, whole genome shotgun sequencegi|1693481091|ref|NZ_VFFN01000020.1 |WGS:NZ_VFFN01|NODE_20_length_55692_cov_38.7884Nucleotide
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Erysiphe pulchra isolate Cflorida contig_5702, whole genome shotgun sequence
Erysiphe pulchra isolate Cflorida contig_5702, whole genome shotgun sequencegi|1339924180|gb|PEDP01005700.1||gn :PEDP01|contig_5702Nucleotide
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Erysiphe pulchra isolate Cflorida contig_5787, whole genome shotgun sequence
Erysiphe pulchra isolate Cflorida contig_5787, whole genome shotgun sequencegi|1339924083|gb|PEDP01005785.1||gn :PEDP01|contig_5787Nucleotide
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See more...Assertion and evidence details
Last Updated: Mar 5, 2024