NM_022168.4(IFIH1):c.310T>G (p.Ser104Ala) AND multiple conditions
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Oct 17, 2023
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV003818107.2
Allele description [Variation Report for NM_022168.4(IFIH1):c.310T>G (p.Ser104Ala)]
NM_022168.4(IFIH1):c.310T>G (p.Ser104Ala)
Condition(s)
- Name:
- Singleton-Merten syndrome 1 (SGMRT1)
- Synonyms:
- Widened medullary cavities of bone, aortic calcification, abnormal dentition, and muscular weakness; Syndrome of widened medullary cavities of the metacarpals and phalanges, aortic calcification and abnormal dentition
- Identifiers:
- MONDO: MONDO:0024535; MedGen: C4225427; Orphanet: 85191; OMIM: 182250
Assertion and evidence details
Last Updated: Nov 10, 2024