NM_054012.4(ASS1):c.911G>A (p.Arg304Gln) AND Citrullinemia type I
- Germline classification:
- Likely pathogenic (2 submissions)
- Last evaluated:
- Mar 29, 2024
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV001246468.6
Allele description [Variation Report for NM_054012.4(ASS1):c.911G>A (p.Arg304Gln)]
NM_054012.4(ASS1):c.911G>A (p.Arg304Gln)
Condition(s)
- Name:
- Citrullinemia type I (CTNL1)
- Synonyms:
- Classic citrullinemia; ASS deficiency; Citrullinemia 1; See all synonyms [MedGen]
- Identifiers:
- MONDO: MONDO:0008988; MedGen: C4721769; Orphanet: 247525; OMIM: 215700
-
Mus musculus ret proto-oncogene (Ret), transcript variant 2, mRNA
Mus musculus ret proto-oncogene (Ret), transcript variant 2, mRNAgi|124256483|ref|NM_009050.2|Nucleotide
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See more...Assertion and evidence details
Last Updated: Sep 8, 2024