NM_001017995.3(SH3PXD2B):c.232+4G>A AND Frank-Ter Haar syndrome
- Germline classification:
- Benign (1 submission)
- Last evaluated:
- Jan 12, 2018
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV000296190.5
Allele description [Variation Report for NM_001017995.3(SH3PXD2B):c.232+4G>A]
NM_001017995.3(SH3PXD2B):c.232+4G>A
Condition(s)
- Name:
- Frank-Ter Haar syndrome
- Synonyms:
- MELNICK-NEEDLES SYNDROME, AUTOSOMAL RECESSIVE; Ter Haar syndrome; Autosomal recessive Melnick-Needles syndrome (formerly); See all synonyms [MedGen]
- Identifiers:
- MONDO: MONDO:0009579; MedGen: C1855305; Orphanet: 1266; Orphanet: 137834; OMIM: 249420
-
CD81 isoform 11, partial [Pan troglodytes]
CD81 isoform 11, partial [Pan troglodytes]gi|1331766882|gb|PNI26622.1||gnl|WG G|T0155014_11_protProtein
-
transmembrane protein 107 isoform 1 [Mus musculus]
transmembrane protein 107 isoform 1 [Mus musculus]gi|21539609|ref|NP_080114.1|Protein
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See more...Assertion and evidence details
Last Updated: Feb 28, 2024