NM_001384474.1(LOXHD1):c.5822C>T (p.Pro1941Leu) AND Inborn genetic diseases
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Nov 1, 2022
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV002546387.1
Allele description
NM_001384474.1(LOXHD1):c.5822C>T (p.Pro1941Leu)
Condition(s)
- Name:
- Inborn genetic diseases
- Identifiers:
- MeSH: D030342; MedGen: C0950123
-
Homo sapiens CDK7 strongly-dependent group 2 enhancer GRCh37_chr6:3324264-332546...
Homo sapiens CDK7 strongly-dependent group 2 enhancer GRCh37_chr6:3324264-3325463 (LOC126859557) on chromosome 6gi|2302515548|ref|NG_084058.1|Nucleotide
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See more...Assertion and evidence details
Last Updated: Feb 7, 2023