NM_016729.3(FOLR1):c.358-19T>C AND Cerebral folate transport deficiency
- Germline classification:
- Likely benign (1 submission)
- Last evaluated:
- Mar 23, 2022
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV003024616.3
Allele description [Variation Report for NM_016729.3(FOLR1):c.358-19T>C]
NM_016729.3(FOLR1):c.358-19T>C
Condition(s)
- Name:
- Cerebral folate transport deficiency
- Synonyms:
- Neurodegeneration due to cerebral folate transport deficiency; Cerebral folate deficiency syndrome; FOLATE RECEPTOR DEFICIENCY; See all synonyms [MedGen]
- Identifiers:
- MONDO: MONDO:0013110; MedGen: C2751584; Orphanet: 217382; OMIM: 613068
-
arid3b AT-rich interactive domain 3B [Danio rerio]
arid3b AT-rich interactive domain 3B [Danio rerio]Gene ID:571249Gene
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See more...Assertion and evidence details
Last Updated: Sep 29, 2024