NM_024757.5(EHMT1):c.3011G>A (p.Ser1004Asn) AND Kleefstra syndrome 1
- Germline classification:
- Likely benign (1 submission)
- 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:
- RCV000341037.23
Allele description [Variation Report for NM_024757.5(EHMT1):c.3011G>A (p.Ser1004Asn)]
NM_024757.5(EHMT1):c.3011G>A (p.Ser1004Asn)
Condition(s)
-
FUT4 [Malurus melanocephalus]
FUT4 [Malurus melanocephalus]Gene ID:130578127Gene
-
20976[uid] AND (alive[prop]) (0)
Gene
-
JGI_XZG1154.fwd NIH_XGC_tropGas7 Xenopus tropicalis cDNA clone IMAGE:7520187 5',...
JGI_XZG1154.fwd NIH_XGC_tropGas7 Xenopus tropicalis cDNA clone IMAGE:7520187 5', mRNA sequencegi|57379648|gnl|dbEST|27102242|gb|C 81.1|Nucleotide
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See more...Assertion and evidence details
Last Updated: Oct 13, 2024