NM_144639.3(UROC1):c.1286G>A (p.Arg429His) AND not provided
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Nov 2, 2016
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV000419129.2
Allele description [Variation Report for NM_144639.3(UROC1):c.1286G>A (p.Arg429His)]
NM_144639.3(UROC1):c.1286G>A (p.Arg429His)
Condition(s)
- Synonyms:
- none provided
- Identifiers:
- MedGen: C3661900
-
Absent or delayed speech development
Absent or delayed speech developmentMedGen
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C3276611[conceptid] (1)
MedGen
-
C-terminal-binding protein 1 isoform X7 [Strigops habroptila]
C-terminal-binding protein 1 isoform X7 [Strigops habroptila]gi|1728956026|ref|XP_030349049.1|Protein
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Catostomus macrocheilus CBM:ZF:17557 mitochondrial gene for 12S rRNA, partial se...
Catostomus macrocheilus CBM:ZF:17557 mitochondrial gene for 12S rRNA, partial sequencegi|1561111008|dbj|LC458052.1|Nucleotide
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Last Updated: Dec 24, 2023