GRCh37/hg19 2q11.1-11.2(chr2:96468158-97871906)x3 AND See cases
- Germline classification:
- Likely pathogenic (1 submission)
- Last evaluated:
- Jul 18, 2014
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV000511375.3
Allele description [Variation Report for GRCh37/hg19 2q11.1-11.2(chr2:96468158-97871906)x3]
GRCh37/hg19 2q11.1-11.2(chr2:96468158-97871906)x3
Condition(s)
- Name:
- See cases [See the Variation display for details]
- Identifiers:
-
Trk2p [Saccharomyces cerevisiae S288C]
Trk2p [Saccharomyces cerevisiae S288C]gi|6322903|ref|NP_012976.1|Protein
-
serine/threonine-protein kinase WNK3 isoform X4 [Homo sapiens]
serine/threonine-protein kinase WNK3 isoform X4 [Homo sapiens]gi|2217393883|ref|XP_047298339.1|Protein
-
unknown [Homo sapiens]
unknown [Homo sapiens]gi|62630143|gb|AAX88888.1|Protein
-
IL1B, partial [Homo sapiens]
IL1B, partial [Homo sapiens]gi|47115295|emb|CAG28607.1|Protein
-
PREDICTED: Homo sapiens rabaptin, RAB GTPase binding effector protein 1 (RABEP1)...
PREDICTED: Homo sapiens rabaptin, RAB GTPase binding effector protein 1 (RABEP1), transcript variant X5, mRNAgi|2217314696|ref|XM_047437041.1|Nucleotide
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See more...Assertion and evidence details
Last Updated: May 7, 2024