GRCh37/hg19 5p15.33-15.1(chr5:113577-17654787)x1 AND not provided
- Germline classification:
- Pathogenic (1 submission)
- Last evaluated:
- Mar 22, 2022
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV002473919.1
Allele description [Variation Report for GRCh37/hg19 5p15.33-15.1(chr5:113577-17654787)x1]
GRCh37/hg19 5p15.33-15.1(chr5:113577-17654787)x1
Condition(s)
- Synonyms:
- none provided
- Identifiers:
- MedGen: CN517202
-
creatine kinase brain isoform 1, partial [Homo sapiens]
creatine kinase brain isoform 1, partial [Homo sapiens]gi|957949127|gb|ALQ33435.1|Protein
-
Creatine kinase, brain [Homo sapiens]
Creatine kinase, brain [Homo sapiens]gi|12654701|gb|AAH01190.1|Protein
-
plexin-D1 isoform X2 [Homo sapiens]
plexin-D1 isoform X2 [Homo sapiens]gi|2462588290|ref|XP_054201768.1|Protein
-
putative RNA-binding protein Luc7-like 1 isoform X2 [Homo sapiens]
putative RNA-binding protein Luc7-like 1 isoform X2 [Homo sapiens]gi|2462549810|ref|XP_054169431.1|Protein
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See more...Assertion and evidence details
Last Updated: Mar 26, 2023