NM_005506.4(SCARB2):c.580G>A (p.Asp194Asn) AND Action myoclonus-renal failure syndrome
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Mar 12, 2020
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV003139761.3
Allele description [Variation Report for NM_005506.4(SCARB2):c.580G>A (p.Asp194Asn)]
NM_005506.4(SCARB2):c.580G>A (p.Asp194Asn)
Condition(s)
- Name:
- Action myoclonus-renal failure syndrome
- Synonyms:
- MYOCLONUS-NEPHROPATHY SYNDROME; Epilepsy, progressive myoclonic 4, with or without renal failure; EPILEPSY, PROGRESSIVE MYOCLONIC, 4, WITH RENAL FAILURE; See all synonyms [MedGen]
- Identifiers:
- MONDO: MONDO:0009699; MeSH: D020191; MedGen: C0751779; Orphanet: 163696; OMIM: 254900
-
hypothetical protein CTHT_0039810 [Thermochaetoides thermophila DSM 1495]
hypothetical protein CTHT_0039810 [Thermochaetoides thermophila DSM 1495]gi|576041036|ref|XP_006694391.1|Protein
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See more...Assertion and evidence details
Last Updated: Sep 29, 2024