NM_000031.6(ALAD):c.264C>T (p.Asp88=) AND Porphobilinogen synthase deficiency
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Jan 13, 2018
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV000312002.5
Allele description [Variation Report for NM_000031.6(ALAD):c.264C>T (p.Asp88=)]
NM_000031.6(ALAD):c.264C>T (p.Asp88=)
Condition(s)
- Name:
- Porphobilinogen synthase deficiency
- Synonyms:
- ALAD DEFICIENCY; DELTA-AMINOLEVULINATE DEHYDRATASE DEFICIENCY; DOSS PORPHYRIA; See all synonyms [MedGen]
- Identifiers:
- MONDO: MONDO:0013000; MedGen: C0268328; Orphanet: 100924; OMIM: 612740
-
NFE2 (0)
MedGen
-
Mus musculus solute carrier family 4 (anion exchanger), member 2, mRNA (cDNA clo...
Mus musculus solute carrier family 4 (anion exchanger), member 2, mRNA (cDNA clone IMAGE:3491550), partial cdsgi|12805514|gb|BC002234.1|Nucleotide
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RecName: Full=Synaptophysin; AltName: Full=BM89 antigen; AltName: Full=Major syn...
RecName: Full=Synaptophysin; AltName: Full=BM89 antigen; AltName: Full=Major synaptic vesicle protein p38gi|41019466|sp|Q62277.2|SYPH_MOUSEProtein
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Last Updated: May 19, 2024