NM_024596.5(MCPH1):c.128T>C (p.Phe43Ser) AND not provided
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Aug 29, 2016
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV000371509.5
Allele description [Variation Report for NM_024596.5(MCPH1):c.128T>C (p.Phe43Ser)]
NM_024596.5(MCPH1):c.128T>C (p.Phe43Ser)
Condition(s)
- Synonyms:
- none provided
- Identifiers:
- MedGen: CN517202
-
acetyl-CoA carboxylase 2 isoform X1 [Equus caballus]
acetyl-CoA carboxylase 2 isoform X1 [Equus caballus]gi|1333700555|ref|XP_001496980.2|Protein
-
PREDICTED: Pan paniscus tripartite motif containing 25 (TRIM25), transcript vari...
PREDICTED: Pan paniscus tripartite motif containing 25 (TRIM25), transcript variant X1, mRNAgi|2694359695|ref|XM_003817406.5|Nucleotide
-
Tssr49419 AND (alive[prop]) (0)
Gene
-
hypothetical protein SEA_BUBBLES123_78 [Mycobacterium phage Bubbles123]
hypothetical protein SEA_BUBBLES123_78 [Mycobacterium phage Bubbles123]gi|1131741446|gb|APU93075.1|Protein
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Last Updated: Apr 9, 2023