GRCh37/hg19 3q26.31-29(chr3:171558472-197871052)x3 AND Isolated anorectal malformation
- Germline classification:
- Likely pathogenic (1 submission)
- Last evaluated:
- Aug 1, 2022
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV002286610.1
Allele description [Variation Report for GRCh37/hg19 3q26.31-29(chr3:171558472-197871052)x3]
GRCh37/hg19 3q26.31-29(chr3:171558472-197871052)x3
Condition(s)
- Name:
- Isolated anorectal malformation
- Identifiers:
- MedGen: C5680419
-
Rims2 regulating synaptic membrane exocytosis 2 [Mus musculus]
Rims2 regulating synaptic membrane exocytosis 2 [Mus musculus]Gene ID:116838Gene
-
Gene Links for GEO Profiles (Select 56109615) (1)
Gene
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See more...Assertion and evidence details
Last Updated: Jan 26, 2024