NM_015631.6(TCTN3):c.18C>T (p.Leu6=) AND multiple conditions
- Germline classification:
- Likely benign (1 submission)
- Last evaluated:
- May 11, 2023
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV002201215.6
Allele description [Variation Report for NM_015631.6(TCTN3):c.18C>T (p.Leu6=)]
NM_015631.6(TCTN3):c.18C>T (p.Leu6=)
Condition(s)
- Name:
- Orofacial-digital syndrome IV (OFD4)
- Synonyms:
- OFD SYNDROME, BARAITSER-BURN TYPE; OFDS IV; ORAL-FACIAL-DIGITAL SYNDROME, TYPE IV; See all synonyms [MedGen]
- Identifiers:
- MONDO: MONDO:0009794; MedGen: C0406727; Orphanet: 2753; OMIM: 258860
-
putative NTPase [Infectious spleen and kidney necrosis virus]
putative NTPase [Infectious spleen and kidney necrosis virus]gi|19881468|ref|NP_612285.1|Protein
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See more...Assertion and evidence details
Last Updated: Sep 29, 2024