NM_006842.3(SF3B2):c.301C>G (p.Pro101Ala) AND Inborn genetic diseases
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Aug 4, 2023
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV003367758.2
Allele description [Variation Report for NM_006842.3(SF3B2):c.301C>G (p.Pro101Ala)]
NM_006842.3(SF3B2):c.301C>G (p.Pro101Ala)
Condition(s)
- Name:
- Inborn genetic diseases
- Identifiers:
- MeSH: D030342; MedGen: C0950123
-
txid134920[Organism] (3237)
SRA
-
Concise Conserved Domain Links for Protein (Select 2462622761) (0)
Conserved Domains
-
Homologene neighbors for GEO Profiles (Select 128070103) (0)
GEO Profiles
-
Homo sapiens genomic DNA, chromosome 11 clone:RP11-496I9, complete sequence
Homo sapiens genomic DNA, chromosome 11 clone:RP11-496I9, complete sequencegi|32490502|dbj|AP006284.2|Nucleotide
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Last Updated: May 1, 2024