NM_015443.4(KANSL1):c.3220C>T (p.Arg1074Trp) AND Koolen-de Vries syndrome
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Feb 27, 2023
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV003527921.1
Allele description [Variation Report for NM_015443.4(KANSL1):c.3220C>T (p.Arg1074Trp)]
NM_015443.4(KANSL1):c.3220C>T (p.Arg1074Trp)
Condition(s)
-
kin of IRRE-like protein 2 isoform X1 [Mustela lutreola]
kin of IRRE-like protein 2 isoform X1 [Mustela lutreola]gi|2567477895|ref|XP_059008005.1|Protein
-
CLDN5 [Dasypus novemcinctus]
CLDN5 [Dasypus novemcinctus]Gene ID:101414272Gene
-
ERLEC1 [Vicugna pacos]
ERLEC1 [Vicugna pacos]Gene ID:102537583Gene
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Last Updated: Feb 20, 2024