GRCh37/hg19 21q11.2-22.3(chr21:14771770-48080867)x3 AND See cases
- Germline classification:
- Pathogenic (1 submission)
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV000447884.4
Allele description [Variation Report for GRCh37/hg19 21q11.2-22.3(chr21:14771770-48080867)x3]
GRCh37/hg19 21q11.2-22.3(chr21:14771770-48080867)x3
Condition(s)
- Name:
- See cases [See the Variation display for details]
- Identifiers:
-
PREDICTED: Homo sapiens ELKS/RAB6-interacting/CAST family member 2 (ERC2), trans...
PREDICTED: Homo sapiens ELKS/RAB6-interacting/CAST family member 2 (ERC2), transcript variant X19, mRNAgi|2217343299|ref|XM_047447953.1|Nucleotide
-
TRM-CAT5-1[gene] (3)
ClinVar
-
Ovis aries
Ovis ariesWhole genome sequencing of three breeds of Iranian sheepBioProject
-
PRJNA904537 (1)
BioProject
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See more...Assertion and evidence details
Last Updated: May 7, 2024