NM_002528.7(NTHL1):c.319A>C (p.Thr107Pro) AND not provided
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Oct 9, 2023
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV001048419.7
Allele description
NM_002528.7(NTHL1):c.319A>C (p.Thr107Pro)
Condition(s)
- Synonyms:
- none provided
- Identifiers:
- MedGen: C3661900
-
Syndromic X-linked intellectual disability Nascimento type
Syndromic X-linked intellectual disability Nascimento typeMedGen
-
C3275464[conceptid] (1)
MedGen
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See more...Assertion and evidence details
Last Updated: Jun 23, 2024