NM_001875.5(CPS1):c.3928-9_3928-8del AND Congenital hyperammonemia, type I
- Germline classification:
- Benign/Likely benign (2 submissions)
- Last evaluated:
- Jan 31, 2024
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV000624937.11
Allele description [Variation Report for NM_001875.5(CPS1):c.3928-9_3928-8del]
NM_001875.5(CPS1):c.3928-9_3928-8del
Condition(s)
- Name:
- Congenital hyperammonemia, type I
- Synonyms:
- CPS I DEFICIENCY; Hyperammonemia due to carbamoyl phosphate synthetase 1 deficiency; CPS 1 deficiency; See all synonyms [MedGen]
- Identifiers:
- MONDO: MONDO:0009376; MedGen: C4082171; Orphanet: 147; OMIM: 237300
-
Tnfsfm13 AND (alive[prop]) (3)
Gene
-
Sequence 8 from patent US 9696297
Sequence 8 from patent US 9696297gi|1310121455|gb|AUF07612.1||pat|US 297|8Protein
Your browsing activity is empty.
Activity recording is turned off.
See more...Assertion and evidence details
Last Updated: Mar 10, 2024