NM_000243.3(MEFV):c.656G>A (p.Gly219Asp) AND Familial Mediterranean fever
- Germline classification:
- Uncertain significance (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:
- RCV003125901.1
Allele description [Variation Report for NM_000243.3(MEFV):c.656G>A (p.Gly219Asp)]
NM_000243.3(MEFV):c.656G>A (p.Gly219Asp)
Condition(s)
- Name:
- Familial Mediterranean fever (FMF)
- Synonyms:
- POLYSEROSITIS, FAMILIAL PAROXYSMAL; POLYSEROSITIS, RECURRENT; Periodic peritonitis; See all synonyms [MedGen]
- Identifiers:
- MONDO: MONDO:0018088; MedGen: C0031069; Orphanet: 342; OMIM: 249100
-
LOW QUALITY PROTEIN: stabilin-2 [Pteropus vampyrus]
LOW QUALITY PROTEIN: stabilin-2 [Pteropus vampyrus]gi|1331422593|ref|XP_023383218.1|Protein
-
POGLUT1 [Sceloporus undulatus]
POGLUT1 [Sceloporus undulatus]Gene ID:121927149Gene
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See more...Assertion and evidence details
Last Updated: Dec 24, 2023