NM_152564.5(VPS13B):c.11244G>C (p.Pro3748=) AND Cohen syndrome
- Germline classification:
- Likely benign (2 submissions)
- Last evaluated:
- Oct 27, 2021
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV001272469.14
Allele description [Variation Report for NM_152564.5(VPS13B):c.11244G>C (p.Pro3748=)]
NM_152564.5(VPS13B):c.11244G>C (p.Pro3748=)
Condition(s)
-
Homo sapiens ankyrin repeat and EF-hand domain containing 1 (ANKEF1), transcript...
Homo sapiens ankyrin repeat and EF-hand domain containing 1 (ANKEF1), transcript variant 2, mRNAgi|1676317789|ref|NM_198798.3|Nucleotide
-
Mus musculus leucine-rich and death domain containing, mRNA (cDNA clone IMAGE:68...
Mus musculus leucine-rich and death domain containing, mRNA (cDNA clone IMAGE:6813129), partial cdsgi|34785229|gb|BC056987.1|Nucleotide
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See more...Assertion and evidence details
Last Updated: Oct 13, 2024