NM_015443.4(KANSL1):c.2710GAG[1] (p.Glu905del) AND Koolen-de Vries syndrome
- Germline classification:
- Benign/Likely benign (2 submissions)
- Last evaluated:
- Jan 30, 2024
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV000989940.8
Allele description [Variation Report for NM_015443.4(KANSL1):c.2710GAG[1] (p.Glu905del)]
NM_015443.4(KANSL1):c.2710GAG[1] (p.Glu905del)
Condition(s)
-
PREDICTED: Mus musculus cytochrome b-561 domain containing 2 (Cyb561d2), transcr...
PREDICTED: Mus musculus cytochrome b-561 domain containing 2 (Cyb561d2), transcript variant X2, mRNAgi|1907199167|ref|XM_006511776.5|Nucleotide
-
truncated serine/threonine kinase isoform 3 [Mus musculus]
truncated serine/threonine kinase isoform 3 [Mus musculus]gi|33317336|gb|AAQ04692.1|AF454558_Protein
-
Homo sapiens mRNA for promyelocytic leukemia protein isoform 1 variant protein
Homo sapiens mRNA for promyelocytic leukemia protein isoform 1 variant proteingi|62088401|dbj|AB209411.1|Nucleotide
-
RecName: Full=Tumor protein p53-inducible nuclear protein 1; AltName: Full=Stres...
RecName: Full=Tumor protein p53-inducible nuclear protein 1; AltName: Full=Stress-induced protein; AltName: Full=p53-dependent damage-inducible nuclear protein 1; Short=p53DINP1gi|61216823|sp|Q96A56.1|T53I1_HUMANProtein
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See more...Assertion and evidence details
Last Updated: Aug 4, 2024