NM_152564.5(VPS13B):c.8044C>T (p.Arg2682Ter) AND Cohen syndrome
- Germline classification:
- Pathogenic/Likely pathogenic (4 submissions)
- Last evaluated:
- Nov 5, 2023
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV000050104.8
Allele description [Variation Report for NM_152564.5(VPS13B):c.8044C>T (p.Arg2682Ter)]
NM_152564.5(VPS13B):c.8044C>T (p.Arg2682Ter)
Condition(s)
-
WW domain binding protein VOPP1 isoform X3 [Rattus norvegicus]
WW domain binding protein VOPP1 isoform X3 [Rattus norvegicus]gi|2678938516|ref|XP_063142345.1|Protein
-
Ascomycota sp. AFTOL 1976 18S ribosomal RNA gene, partial sequence
Ascomycota sp. AFTOL 1976 18S ribosomal RNA gene, partial sequencegi|667671250|gb|KJ766819.1|Nucleotide
-
Ascomycota sp. AFTOL 1637 18S ribosomal RNA gene, partial sequence
Ascomycota sp. AFTOL 1637 18S ribosomal RNA gene, partial sequencegi|667671251|gb|KJ766820.1|Nucleotide
-
Micralestes lualabae isolate B2_44_8695_J201 cytochrome c oxidase subunit I (COI...
Micralestes lualabae isolate B2_44_8695_J201 cytochrome c oxidase subunit I (COI) gene, partial cds; mitochondrialgi|1047412349|gb|KX186340.1|Nucleotide
-
IQ domain-containing protein F5 [Mus musculus]
IQ domain-containing protein F5 [Mus musculus]gi|222831630|ref|NP_083576.1|Protein
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See more...Assertion and evidence details
Last Updated: Sep 29, 2024
SCV000082513