NM_022455.5(NSD1):c.5106T>C (p.His1702=) AND not specified
- Germline classification:
- Likely benign (1 submission)
- Last evaluated:
- Oct 11, 2016
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV000433009.1
Allele description [Variation Report for NM_022455.5(NSD1):c.5106T>C (p.His1702=)]
NM_022455.5(NSD1):c.5106T>C (p.His1702=)
Condition(s)
- Synonyms:
- AllHighlyPenetrant
- Identifiers:
- MedGen: CN169374
-
phantom, isoform A [Drosophila melanogaster]
phantom, isoform A [Drosophila melanogaster]gi|18860025|ref|NP_573319.1|Protein
-
Gm23129 predicted gene, 23129 [Mus musculus]
Gm23129 predicted gene, 23129 [Mus musculus]Gene ID:115485986Gene
-
Gm23129 AND (alive[prop]) (1)
Gene
-
gamma-aminobutyric acid receptor subunit rho-1 isoform c [Homo sapiens]
gamma-aminobutyric acid receptor subunit rho-1 isoform c [Homo sapiens]gi|389886549|ref|NP_001254511.1|Protein
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See more...Assertion and evidence details
Last Updated: Apr 15, 2023