NM_001267550.2(TTN):c.84696A>C (p.Glu28232Asp) AND Autosomal recessive limb-girdle muscular dystrophy type 2J
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Jan 13, 2018
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV000375092.5
Allele description [Variation Report for NM_001267550.2(TTN):c.84696A>C (p.Glu28232Asp)]
NM_001267550.2(TTN):c.84696A>C (p.Glu28232Asp)
Condition(s)
-
unnamed protein product [Albugo candida]
unnamed protein product [Albugo candida]gi|635360496|emb|CCI50233.1|Protein
-
ugt1a5 UDP glucuronosyltransferase 1 family, polypeptide A5 [Danio rerio]
ugt1a5 UDP glucuronosyltransferase 1 family, polypeptide A5 [Danio rerio]Gene ID:100384897Gene
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See more...Assertion and evidence details
Last Updated: Sep 29, 2024