GRCh37/hg19 18p11.32-11.21(chr18:136226-15198990) AND not specified
- Germline classification:
- Pathogenic (1 submission)
- Last evaluated:
- Mar 1, 2022
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV002052613.3
Allele description [Variation Report for GRCh37/hg19 18p11.32-11.21(chr18:136226-15198990)]
GRCh37/hg19 18p11.32-11.21(chr18:136226-15198990)
Condition(s)
- Synonyms:
- AllHighlyPenetrant
- Identifiers:
- MedGen: CN169374
-
PREDICTED: Homo sapiens neurexin 3 (NRXN3), transcript variant X40, mRNA
PREDICTED: Homo sapiens neurexin 3 (NRXN3), transcript variant X40, mRNAgi|2217299026|ref|XM_047431963.1|Nucleotide
-
PREDICTED: Rattus norvegicus nucleoporin 58 (Nup58), transcript variant X3, mRNA
PREDICTED: Rattus norvegicus nucleoporin 58 (Nup58), transcript variant X3, mRNAgi|2678898269|ref|XM_039092982.2|Nucleotide
-
RecName: Full=Deubiquitinating protein VCPIP1; AltName: Full=Valosin-containing ...
RecName: Full=Deubiquitinating protein VCPIP1; AltName: Full=Valosin-containing protein p97/p47 complex-interacting protein 1; AltName: Full=Valosin-containing protein p97/p47 complex-interacting protein p135; Short=VCP/p47 complex-interacting 135-kDa proteingi|55977741|sp|Q8CF97.2|VCIP1_RATProtein
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See more...Assertion and evidence details
Last Updated: Aug 15, 2022