NM_153704.6(TMEM67):c.2100+3A>G AND multiple conditions
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Aug 31, 2022
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV001889294.3
Allele description [Variation Report for NM_153704.6(TMEM67):c.2100+3A>G]
NM_153704.6(TMEM67):c.2100+3A>G
Condition(s)
- Name:
- Familial aplasia of the vermis
- Synonyms:
- CEREBELLOPARENCHYMAL DISORDER IV; Joubert syndrome; Cerebelloparenchymal disorder 4; See all synonyms [MedGen]
- Identifiers:
- MONDO: MONDO:0018772; MedGen: C0431399; Orphanet: 475; OMIM: PS213300
-
Homo sapiens ATPase H+ transporting accessory protein 1 (ATP6AP1), RefSeqGene on...
Homo sapiens ATPase H+ transporting accessory protein 1 (ATP6AP1), RefSeqGene on chromosome Xgi|1139736355|ref|NG_052807.1|Nucleotide
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See more...Assertion and evidence details
Last Updated: Feb 28, 2024