GRCh37/hg19 21q22.2-22.3(chr21:42410406-48097372) AND not specified
- Germline classification:
- Pathogenic (1 submission)
- Last evaluated:
- Mar 1, 2022
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV002052739.3
Allele description [Variation Report for GRCh37/hg19 21q22.2-22.3(chr21:42410406-48097372)]
GRCh37/hg19 21q22.2-22.3(chr21:42410406-48097372)
Condition(s)
- Synonyms:
- AllHighlyPenetrant
- Identifiers:
- MedGen: CN169374
-
Homo sapiens BAC clone RP11-52C8 from 2, complete sequence
Homo sapiens BAC clone RP11-52C8 from 2, complete sequencegi|18140107|gb|AC013435.7||gnl|wugs 1-52C8Nucleotide
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tmem126a transmembrane protein 126A [Xenopus tropicalis]
tmem126a transmembrane protein 126A [Xenopus tropicalis]Gene ID:394682Gene
-
394682[uid] AND (alive[prop]) (1)
Gene
-
uncharacterized protein Dyak_GE12037, isoform A [Drosophila yakuba]
uncharacterized protein Dyak_GE12037, isoform A [Drosophila yakuba]gi|948554413|gnl|WGS:AAEU|GE12037-P EDW91516.2|Protein
-
Homo sapiens adenylate kinase 3 (AK3), transcript variant 5, mRNA; nuclear gene ...
Homo sapiens adenylate kinase 3 (AK3), transcript variant 5, mRNA; nuclear gene for mitochondrial productgi|315434226|ref|NM_001199855.1|Nucleotide
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See more...Assertion and evidence details
Last Updated: Mar 26, 2023