NM_001382241.1(TNPO2):c.1543T>C (p.Tyr515His) AND Intellectual developmental disorder with hypotonia, impaired speech, and dysmorphic facies
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Jan 3, 2022
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV001808903.1
Allele description [Variation Report for NM_001382241.1(TNPO2):c.1543T>C (p.Tyr515His)]
NM_001382241.1(TNPO2):c.1543T>C (p.Tyr515His)
Condition(s)
-
PH and SEC7 domain-containing protein 1 isoform X2 [Rattus norvegicus]
PH and SEC7 domain-containing protein 1 isoform X2 [Rattus norvegicus]gi|1958642058|ref|XP_038944973.1|Protein
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See more...Assertion and evidence details
Last Updated: Dec 24, 2023