NM_000243.3(MEFV):c.1643C>A (p.Thr548Asn) 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:
- RCV003126934.1
Allele description [Variation Report for NM_000243.3(MEFV):c.1643C>A (p.Thr548Asn)]
NM_000243.3(MEFV):c.1643C>A (p.Thr548Asn)
Condition(s)
-
uncharacterized protein YLL053C [Saccharomyces cerevisiae S288C]
uncharacterized protein YLL053C [Saccharomyces cerevisiae S288C]gi|6322975|ref|NP_013047.1|Protein
-
Homo sapiens small nuclear ribonucleoprotein 40kDa (U5), mRNA (cDNA clone MGC:19...
Homo sapiens small nuclear ribonucleoprotein 40kDa (U5), mRNA (cDNA clone MGC:1910 IMAGE:3504573), complete cdsgi|37589016|gb|BC001494.2|Nucleotide
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See more...Assertion and evidence details
Last Updated: Sep 29, 2024