NM_002180.3(IGHMBP2):c.387C>G (p.Asp129Glu) AND Inborn genetic diseases
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Jul 14, 2021
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV002366291.2
Allele description [Variation Report for NM_002180.3(IGHMBP2):c.387C>G (p.Asp129Glu)]
NM_002180.3(IGHMBP2):c.387C>G (p.Asp129Glu)
Condition(s)
- Name:
- Inborn genetic diseases
- Identifiers:
- MeSH: D030342; MedGen: C0950123
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JGI_XZT58105.fwd NIH_XGC_tropTad5 Xenopus tropicalis cDNA clone IMAGE:7632681 5'...
JGI_XZT58105.fwd NIH_XGC_tropTad5 Xenopus tropicalis cDNA clone IMAGE:7632681 5', mRNA sequencegi|74297042|gnl|dbEST|31372568|gb|C 95.2|Nucleotide
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See more...Assertion and evidence details
Last Updated: May 1, 2024