NM_021044.4(DHH):c.681G>T (p.Ala227=) AND 46,XY sex reversal 7
- Germline classification:
- Likely benign (1 submission)
- Last evaluated:
- May 10, 2022
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV002927578.2
Allele description
NM_021044.4(DHH):c.681G>T (p.Ala227=)
Condition(s)
- Name:
- 46,XY sex reversal 7
- Synonyms:
- GONADAL DYSGENESIS, XY, MALE-LIMITED; 46,XY SEX REVERSAL, PARTIAL OR COMPLETE, DHH-RELATED; 46,XY GONADAL DYSGENESIS, PARTIAL OR COMPLETE, DHH-RELATED; See all synonyms [MedGen]
- Identifiers:
- MONDO: MONDO:0009301; MedGen: C1856273; Orphanet: 242; OMIM: 233420
-
arnD [Escherichia fergusonii]
arnD [Escherichia fergusonii]Gene ID:75058028Gene
-
Profile neighbors for GEO Profiles (Select 77996430) (200)
GEO Profiles
-
Profile neighbors for GEO Profiles (Select 77994325) (200)
GEO Profiles
-
CFI complement factor I [Homo sapiens]
CFI complement factor I [Homo sapiens]Gene ID:3426Gene
-
Gene for MedGen (Select 483045) (1)
Gene
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See more...Assertion and evidence details
Last Updated: Feb 14, 2024