NM_152564.5(VPS13B):c.9941A>G (p.Gln3314Arg) AND Cohen syndrome
- Germline classification:
- Uncertain significance (2 submissions)
- Last evaluated:
- Mar 13, 2022
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV001240996.5
Allele description [Variation Report for NM_152564.5(VPS13B):c.9941A>G (p.Gln3314Arg)]
NM_152564.5(VPS13B):c.9941A>G (p.Gln3314Arg)
Condition(s)
-
Mus musculus heat shock protein family, member 7 (cardiovascular), mRNA (cDNA cl...
Mus musculus heat shock protein family, member 7 (cardiovascular), mRNA (cDNA clone MGC:107591 IMAGE:6755510), complete cdsgi|58477663|gb|BC089584.1|Nucleotide
-
Gm52875 predicted gene, 52875 [Mus musculus]
Gm52875 predicted gene, 52875 [Mus musculus]Gene ID:115490369Gene
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See more...Assertion and evidence details
Last Updated: Sep 29, 2024