NM_001377.3(DYNC2H1):c.11450T>C (p.Phe3817Ser) AND not specified
- Germline classification:
- Likely pathogenic (1 submission)
- Last evaluated:
- Jan 18, 2024
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV003488809.3
Allele description [Variation Report for NM_001377.3(DYNC2H1):c.11450T>C (p.Phe3817Ser)]
NM_001377.3(DYNC2H1):c.11450T>C (p.Phe3817Ser)
Condition(s)
- Synonyms:
- AllHighlyPenetrant
- Identifiers:
- MedGen: CN169374
-
PMC Links for GEO Profiles (Select 27206441) (2)
PMC
-
chromodomain-helicase-DNA-binding protein 6 isoform X5 [Homo sapiens]
chromodomain-helicase-DNA-binding protein 6 isoform X5 [Homo sapiens]gi|2217336360|ref|XP_047296506.1|Protein
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See more...Assertion and evidence details
Last Updated: Aug 4, 2024