NM_001399.5(EDA):c.97C>A (p.Arg33=) AND Hypohidrotic X-linked ectodermal dysplasia
- Germline classification:
- Likely benign (1 submission)
- Last evaluated:
- Mar 18, 2022
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV003029712.3
Allele description [Variation Report for NM_001399.5(EDA):c.97C>A (p.Arg33=)]
NM_001399.5(EDA):c.97C>A (p.Arg33=)
Condition(s)
- Name:
- Hypohidrotic X-linked ectodermal dysplasia (XHED)
- Synonyms:
- ECTODERMAL DYSPLASIA, HYPOHIDROTIC, 1; Anhidrotic ectodermal dysplasia X-linked; Christ Siemens Touraine syndrome; See all synonyms [MedGen]
- Identifiers:
- MONDO: MONDO:0010585; MedGen: C0162359; Orphanet: 181; Orphanet: 238468; OMIM: 305100
-
Homo sapiens BBP-like protein 1 (BLP1), transcript variant 1, mRNA
Homo sapiens BBP-like protein 1 (BLP1), transcript variant 1, mRNAgi|17865796|ref|NM_078473.1|Nucleotide
-
AGENCOURT_86398485 NICHD_XGC_panc Xenopus laevis cDNA clone IMAGE:8734850 5', mR...
AGENCOURT_86398485 NICHD_XGC_panc Xenopus laevis cDNA clone IMAGE:8734850 5', mRNA sequencegi|111582303|gnl|dbEST|40924148|gb| 883.1|Nucleotide
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See more...Assertion and evidence details
Last Updated: Sep 29, 2024