NM_000531.6(OTC):c.947T>C (p.Phe316Ser) AND not provided
- Germline classification:
- Pathogenic (1 submission)
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV000083617.1
Allele description [Variation Report for NM_000531.6(OTC):c.947T>C (p.Phe316Ser)]
NM_000531.6(OTC):c.947T>C (p.Phe316Ser)
Condition(s)
- Synonyms:
- none provided
- Identifiers:
- MedGen: CN517202
-
CHST14 [Malurus melanocephalus]
CHST14 [Malurus melanocephalus]Gene ID:130583350Gene
-
ACOT4 [Saimiri boliviensis]
ACOT4 [Saimiri boliviensis]Gene ID:101029645Gene
-
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dd82h03.y1 Wellcome CRC pcDNAI egg Xenopus laevis cDNA clone IMAGE:3430900 5' si...
dd82h03.y1 Wellcome CRC pcDNAI egg Xenopus laevis cDNA clone IMAGE:3430900 5' similar to TR:Q15024 Q15024 KIAA0116 PROTEIN, mRNA sequencegi|11781309|gnl|dbEST|7123587|gb|BF 1.1|Nucleotide
-
BX762756 XGC-gastrula Xenopus tropicalis cDNA clone TGas102c02 3', mRNA sequence
BX762756 XGC-gastrula Xenopus tropicalis cDNA clone TGas102c02 3', mRNA sequencegi|39669965|gnl|dbEST|20841996|emb| 756.1|Nucleotide
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See more...Assertion and evidence details
Last Updated: Mar 26, 2023
SCV000115703