NM_153704.6(TMEM67):c.2975G>T (p.Arg992Ile) AND Joubert syndrome 6
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Jan 12, 2018
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV000396661.5
Allele description [Variation Report for NM_153704.6(TMEM67):c.2975G>T (p.Arg992Ile)]
NM_153704.6(TMEM67):c.2975G>T (p.Arg992Ile)
Condition(s)
-
Structure Links for Protein (Select 153792582) (2)
Structure
-
LOC126859838 [Homo sapiens]
LOC126859838 [Homo sapiens]Gene ID:126859838Gene
-
Bacteria sequence.
Bacteria sequence.PopSet: 361670885PopSet
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txid717025[Organism:noexp] (1)
PopSet
-
zinc finger matrin-type protein 1 isoform 5 [Homo sapiens]
zinc finger matrin-type protein 1 isoform 5 [Homo sapiens]gi|2029299486|ref|NP_001381489.1|Protein
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See more...Assertion and evidence details
Last Updated: Apr 9, 2023