GRCh37/hg19 18p11.32-11.21(chr18:136226-15198990) 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:
- RCV002052613.3
Allele description [Variation Report for GRCh37/hg19 18p11.32-11.21(chr18:136226-15198990)]
GRCh37/hg19 18p11.32-11.21(chr18:136226-15198990)
Condition(s)
- Synonyms:
- AllHighlyPenetrant
- Identifiers:
- MedGen: CN169374
-
Similar Compounds for PubChem Compound (Select 21600688) (5778)
PubChem Compound
-
Structure Links for Conserved Domains (Select 460786) (5)
Structure
-
Homo sapiens cDNA FLJ50032 complete cds, highly similar to Homo sapiens spectrin...
Homo sapiens cDNA FLJ50032 complete cds, highly similar to Homo sapiens spectrin domain with coiled-coils 1 (SPECC1), transcript variant, mRNAgi|194376219|dbj|AK301318.1|Nucleotide
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See more...Assertion and evidence details
Last Updated: Aug 15, 2022