NM_001348323.3(TRIP12):c.5429C>T (p.Ser1810Leu) AND Clark-Baraitser syndrome
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Mar 22, 2018
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV001333210.1
Allele description [Variation Report for NM_001348323.3(TRIP12):c.5429C>T (p.Ser1810Leu)]
NM_001348323.3(TRIP12):c.5429C>T (p.Ser1810Leu)
Condition(s)
- Name:
- Clark-Baraitser syndrome
- Synonyms:
- MENTAL RETARDATION, AUTOSOMAL DOMINANT 49; BARAITSER SYNDROME; Mental retardation, tall stature, obesity, macrocephaly and typical facial features; See all synonyms [MedGen]
- Identifiers:
- MONDO: MONDO:0030914; MedGen: C2931130; OMIM: 617752
-
Gluconobacter morbifer G707 75_13, whole genome shotgun sequence
Gluconobacter morbifer G707 75_13, whole genome shotgun sequencegi|357032966|ref|NZ_AGQV01000013.1| WGS:NZ_AGQV01|75_13Nucleotide
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See more...Assertion and evidence details
Last Updated: Jun 3, 2022