NM_206933.4(USH2A):c.2525del (p.Phe842fs) AND Usher syndrome type 2A
- Germline classification:
- Likely pathogenic (1 submission)
- Last evaluated:
- Dec 17, 2021
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV002310147.2
Allele description [Variation Report for NM_206933.4(USH2A):c.2525del (p.Phe842fs)]
NM_206933.4(USH2A):c.2525del (p.Phe842fs)
Condition(s)
-
cold shock domain-containing protein C2 [Mus musculus]
cold shock domain-containing protein C2 [Mus musculus]gi|269914112|ref|NP_663448.2|Protein
-
JGI_CAAN1951.fwd NIH_XGC_tropTe4 Xenopus tropicalis cDNA clone IMAGE:7687857 5',...
JGI_CAAN1951.fwd NIH_XGC_tropTe4 Xenopus tropicalis cDNA clone IMAGE:7687857 5', mRNA sequencegi|58648981|gnl|dbEST|27616556|gb|C 37.1|Nucleotide
-
RecName: Full=Shiga-like toxin 1 subunit B; Short=SLT-1 B subunit; Short=SLT-1b;...
RecName: Full=Shiga-like toxin 1 subunit B; Short=SLT-1 B subunit; Short=SLT-1b; Short=SLT-Ib; AltName: Full=Verocytotoxin 1 subunit B; Short=Verotoxin 1 subunit B; Flags: Precursorgi|59800334|sp|P69179.1|STXB_BPH19Protein
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See more...Assertion and evidence details
Last Updated: Mar 26, 2023