NM_001164277.2(SLC37A4):c.1176T>G (p.Ser392Arg) AND multiple conditions
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Mar 14, 2022
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV002506916.1
Allele description [Variation Report for NM_001164277.2(SLC37A4):c.1176T>G (p.Ser392Arg)]
NM_001164277.2(SLC37A4):c.1176T>G (p.Ser392Arg)
Condition(s)
- Name:
- Phosphate transport defect (GSD1C)
- Synonyms:
- GLYCOGEN STORAGE DISEASE Ic; GSD Ic
- Identifiers:
- MedGen: C0342749; Orphanet: 364; Orphanet: 79259; OMIM: 232240
-
S41 family peptidase [Gloeomargaritales cyanobacterium VI4D9]
S41 family peptidase [Gloeomargaritales cyanobacterium VI4D9]gi|2414122561|gb|WAS05646.1||gnl|PR 2984|LQF76_01785Protein
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See more...Assertion and evidence details
Last Updated: Sep 29, 2024