NM_003482.4(KMT2D):c.5874C>T (p.Arg1958=) AND Kabuki syndrome 1
- Germline classification:
- Likely benign (1 submission)
- Last evaluated:
- Oct 8, 2021
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV002502213.1
Allele description [Variation Report for NM_003482.4(KMT2D):c.5874C>T (p.Arg1958=)]
NM_003482.4(KMT2D):c.5874C>T (p.Arg1958=)
Condition(s)
-
Mus musculus cholecystokinin B receptor (Cckbr), mRNA
Mus musculus cholecystokinin B receptor (Cckbr), mRNAgi|807066379|ref|NM_007627.5|Nucleotide
-
LOC122717156 [Apis laboriosa]
LOC122717156 [Apis laboriosa]Gene ID:122717156Gene
-
LOC120009514 [Tripterygium wilfordii]
LOC120009514 [Tripterygium wilfordii]Gene ID:120009514Gene
-
Structural Classes of Retroelements and Replication Strategies - Retroviruses
Structural Classes of Retroelements and Replication Strategies - Retroviruses
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See more...Assertion and evidence details
Last Updated: Sep 29, 2024