NM_024649.5(BBS1):c.1067G>A (p.Arg356His) AND Bardet-Biedl syndrome
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Jun 20, 2022
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV001299587.14
Allele description [Variation Report for NM_024649.5(BBS1):c.1067G>A (p.Arg356His)]
NM_024649.5(BBS1):c.1067G>A (p.Arg356His)
Condition(s)
-
Euriphene amicia voucher ZFMK:BN-SZS-00117 putative Ngg1 interacting factor 3 li...
Euriphene amicia voucher ZFMK:BN-SZS-00117 putative Ngg1 interacting factor 3 like 1 binding protein 1 gene, partial cdsgi|2569196442|gb|OL165916.1|Nucleotide
-
RecName: Full=NAD(P)H-quinone oxidoreductase subunit 3, chloroplastic; AltName: ...
RecName: Full=NAD(P)H-quinone oxidoreductase subunit 3, chloroplastic; AltName: Full=NAD(P)H dehydrogenase subunit 3; AltName: Full=NADH-plastoquinone oxidoreductase subunit 3gi|75305092|sp|Q8WI13.1|NU3C_PSINUProtein
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See more...Assertion and evidence details
Last Updated: Oct 26, 2024