NM_000243.3(MEFV):c.2103G>A (p.Ala701=) AND Familial Mediterranean fever, autosomal dominant
- Germline classification:
- Benign (1 submission)
- Last evaluated:
- Feb 8, 2023
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV003126443.1
Allele description [Variation Report for NM_000243.3(MEFV):c.2103G>A (p.Ala701=)]
NM_000243.3(MEFV):c.2103G>A (p.Ala701=)
Condition(s)
-
Homo sapiens retinol binding protein 1 (RBP1), transcript variant 3, mRNA
Homo sapiens retinol binding protein 1 (RBP1), transcript variant 3, mRNAgi|1478051101|ref|NM_001130993.2|Nucleotide
-
Mus musculus polycystin 2, transient receptor potential cation channel (Pkd2), m...
Mus musculus polycystin 2, transient receptor potential cation channel (Pkd2), mRNAgi|164519056|ref|NM_008861.3|Nucleotide
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See more...Assertion and evidence details
Last Updated: Aug 4, 2024