NM_001170629.2(CHD8):c.6131G>A (p.Arg2044Gln) AND Intellectual developmental disorder with autism and macrocephaly
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- May 30, 2022
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV002254709.9
Allele description [Variation Report for NM_001170629.2(CHD8):c.6131G>A (p.Arg2044Gln)]
NM_001170629.2(CHD8):c.6131G>A (p.Arg2044Gln)
Condition(s)
-
At.65910 AND (alive[prop]) (0)
Gene
-
HS6ST3 [Tauraco erythrolophus]
HS6ST3 [Tauraco erythrolophus]Gene ID:104374176Gene
-
LOC107622455 [Arachis ipaensis]
LOC107622455 [Arachis ipaensis]Gene ID:107622455Gene
-
GCNT1 [Tauraco erythrolophus]
GCNT1 [Tauraco erythrolophus]Gene ID:104379951Gene
-
hs3st2 [Larimichthys crocea]
hs3st2 [Larimichthys crocea]Gene ID:104918711Gene
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Last Updated: Oct 13, 2024