NM_001370658.1(BTD):c.136C>A (p.Pro46Thr) AND Inborn genetic diseases
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Oct 26, 2022
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV002520100.2
Allele description [Variation Report for NM_001370658.1(BTD):c.136C>A (p.Pro46Thr)]
NM_001370658.1(BTD):c.136C>A (p.Pro46Thr)
Condition(s)
- Name:
- Inborn genetic diseases
- Identifiers:
- MeSH: D030342; MedGen: C0950123
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Nucleotide Links for Gene (Select 105370503) (15)
Nucleotide
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Genes with a similar H3K4me3 profile for Gene (Select 1395) (20)
Gene
-
EGFR NP_005219.2:p.A750_K757del
EGFR NP_005219.2:p.A750_K757delMedGen
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Taxonomy Links for Protein (Select 256574765) (1)
Taxonomy
-
Taxonomy Links for Protein (Select 1953307221) (1)
Taxonomy
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Last Updated: May 1, 2024