NM_015443.4(KANSL1):c.3053C>T (p.Thr1018Ile) AND Koolen-de Vries syndrome
- Germline classification:
- Benign/Likely benign (2 submissions)
- Last evaluated:
- Jan 22, 2024
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV000697747.10
Allele description [Variation Report for NM_015443.4(KANSL1):c.3053C>T (p.Thr1018Ile)]
NM_015443.4(KANSL1):c.3053C>T (p.Thr1018Ile)
Condition(s)
-
AK042900 (16)
GEO Profiles
-
Chinchilla lanigera isolate Chin_1 contig047462, whole genome shotgun sequence
Chinchilla lanigera isolate Chin_1 contig047462, whole genome shotgun sequencegi|393914912|gb|AGCD01047462.1||gnl AGCD01|contig047462Nucleotide
-
PREDICTED: Homo sapiens chromobox 3 (CBX3), transcript variant X1, mRNA
PREDICTED: Homo sapiens chromobox 3 (CBX3), transcript variant X1, mRNAgi|2217365499|ref|XM_005249611.5|Nucleotide
-
hypothetical protein Joe_59 [Streptomyces phage Joe]
hypothetical protein Joe_59 [Streptomyces phage Joe]gi|1102332217|gb|APC43299.1|Protein
-
putative site-specific DNA-cytosine methylase [Mycobacterium phage PP]
putative site-specific DNA-cytosine methylase [Mycobacterium phage PP]gi|1334926266|dbj|BBC53872.1|Protein
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See more...Assertion and evidence details
Last Updated: May 1, 2024