NM_024685.4(BBS10):c.253del (p.Thr85fs) AND Bardet-Biedl syndrome
- Germline classification:
- Pathogenic (1 submission)
- Last evaluated:
- Jul 18, 2023
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV003523196.2
Allele description [Variation Report for NM_024685.4(BBS10):c.253del (p.Thr85fs)]
NM_024685.4(BBS10):c.253del (p.Thr85fs)
Condition(s)
-
MMP17 [Nomascus leucogenys]
MMP17 [Nomascus leucogenys]Gene ID:100588007Gene
-
LOC8072292 [Sorghum bicolor]
LOC8072292 [Sorghum bicolor]Gene ID:8072292Gene
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See more...Assertion and evidence details
Last Updated: Sep 29, 2024