NM_152564.5(VPS13B):c.2999T>C (p.Ile1000Thr) AND Cohen syndrome
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Sep 23, 2022
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV002607339.2
Allele description [Variation Report for NM_152564.5(VPS13B):c.2999T>C (p.Ile1000Thr)]
NM_152564.5(VPS13B):c.2999T>C (p.Ile1000Thr)
Condition(s)
-
Trypanosoma conorhini uncharacterized protein (Tco025E_00075), partial mRNA
Trypanosoma conorhini uncharacterized protein (Tco025E_00075), partial mRNAgi|1673128451|ref|XM_029367024.1|Nucleotide
-
cm16b06.w1 Blackshear/Soares normalized Xenopus egg library Xenopus laevis cDNA ...
cm16b06.w1 Blackshear/Soares normalized Xenopus egg library Xenopus laevis cDNA clone PBX0115B06 5', mRNA sequencegi|7399497|gnl|dbEST|4078732|gb|AW6 .1|Nucleotide
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See more...Assertion and evidence details
Last Updated: Sep 29, 2024