NM_024809.5(TCTN2):c.588G>A (p.Thr196=) AND multiple conditions
- Germline classification:
- Likely benign (1 submission)
- Last evaluated:
- Oct 9, 2023
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV000868939.8
Allele description [Variation Report for NM_024809.5(TCTN2):c.588G>A (p.Thr196=)]
NM_024809.5(TCTN2):c.588G>A (p.Thr196=)
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
-
Sprr1a small proline-rich protein 1A [Rattus norvegicus]
Sprr1a small proline-rich protein 1A [Rattus norvegicus]Gene ID:499660Gene
-
499660[uid] AND (alive[prop]) (1)
Gene
-
Chain E, Hybrid-binding domain of human RNase H1 in complex with 12-mer RNA/DNA
Chain E, Hybrid-binding domain of human RNase H1 in complex with 12-mer RNA/DNAgi|170785164|pdb|3BSU|ENucleotide
Your browsing activity is empty.
Activity recording is turned off.
See more...Assertion and evidence details
Last Updated: Oct 26, 2024