NM_012330.4(KAT6B):c.3768A>G (p.Leu1256=) AND Genitopatellar syndrome
- Germline classification:
- Likely benign (1 submission)
- Last evaluated:
- Apr 7, 2023
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV003031658.3
Allele description [Variation Report for NM_012330.4(KAT6B):c.3768A>G (p.Leu1256=)]
NM_012330.4(KAT6B):c.3768A>G (p.Leu1256=)
Condition(s)
-
acetylcholine receptor subunit alpha [Scleropages formosus]
acetylcholine receptor subunit alpha [Scleropages formosus]gi|1083447773|ref|XP_018585183.1|Protein
-
BJ085053 NIBB Mochii normalized Xenopus tailbud library Xenopus laevis cDNA clon...
BJ085053 NIBB Mochii normalized Xenopus tailbud library Xenopus laevis cDNA clone XL102i20 3', mRNA sequencegi|17580885|gnl|dbEST|10553368|dbj| 053.1|Nucleotide
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Last Updated: Sep 29, 2024