NM_000188.3(HK1):c.1343G>T (p.Gly448Val) AND HK1-related disorder
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Mar 13, 2023
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV004550622.1
Allele description [Variation Report for NM_000188.3(HK1):c.1343G>T (p.Gly448Val)]
NM_000188.3(HK1):c.1343G>T (p.Gly448Val)
Condition(s)
- Name:
- HK1-related disorder
- Synonyms:
- HK1-Related Disorders; HK1-related condition
- Identifiers:
-
Homo sapiens complexin 2 (CPLX2), mRNA
Homo sapiens complexin 2 (CPLX2), mRNAgi|17738306|ref|NM_006650.2|Nucleotide
-
JGI_XZG60910.fwd NIH_XGC_tropGas7 Xenopus tropicalis cDNA clone IMAGE:7574918 5'...
JGI_XZG60910.fwd NIH_XGC_tropGas7 Xenopus tropicalis cDNA clone IMAGE:7574918 5', mRNA sequencegi|72310842|gnl|dbEST|30689076|gb|C 16.2|Nucleotide
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See more...Assertion and evidence details
Last Updated: Oct 13, 2024