NM_177939.3(P4HTM):c.551G>C (p.Ser184Thr) AND Hypotonia, hypoventilation, impaired intellectual development, dysautonomia, epilepsy, and eye abnormalities
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Jan 17, 2022
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV003142658.3
Allele description [Variation Report for NM_177939.3(P4HTM):c.551G>C (p.Ser184Thr)]
NM_177939.3(P4HTM):c.551G>C (p.Ser184Thr)
Condition(s)
Assertion and evidence details
Last Updated: Mar 16, 2024