NM_178338.2(APRG1):c.*164T>C AND APRG1-related disorder
- Germline classification:
- Likely benign (1 submission)
- Last evaluated:
- Mar 7, 2023
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV003951497.2
Allele description [Variation Report for NM_178338.2(APRG1):c.*164T>C]
NM_178338.2(APRG1):c.*164T>C
Condition(s)
- Name:
- APRG1-related disorder
- Synonyms:
- APRG1-related condition
- Identifiers:
-
SAMN15590375 (1)
SRA
-
Homo sapiens phosphoribosyl pyrophosphate synthetase 1 (PRPS1), RefSeqGene (LRG_...
Homo sapiens phosphoribosyl pyrophosphate synthetase 1 (PRPS1), RefSeqGene (LRG_264) on chromosome Xgi|197276627|ref|NG_008407.1||gnl|L G_264Nucleotide
Your browsing activity is empty.
Activity recording is turned off.
See more...Assertion and evidence details
Last Updated: Oct 13, 2024