NM_001360.3(DHCR7):c.1087C>T (p.Arg363Cys) AND not provided
- Germline classification:
- Conflicting interpretations of pathogenicity (2 submissions)
- Last evaluated:
- Nov 29, 2022
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV000734205.13
Allele description [Variation Report for NM_001360.3(DHCR7):c.1087C>T (p.Arg363Cys)]
NM_001360.3(DHCR7):c.1087C>T (p.Arg363Cys)
Condition(s)
- Synonyms:
- none provided
- Identifiers:
- MedGen: C3661900
-
serine/threonine-protein kinase 35 isoform X1 [Homo sapiens]
serine/threonine-protein kinase 35 isoform X1 [Homo sapiens]gi|2462579595|ref|XP_054179044.1|Protein
-
N-myc proto-oncogene protein isoform 3 [Homo sapiens]
N-myc proto-oncogene protein isoform 3 [Homo sapiens]gi|648216293|ref|NP_001280162.1|Protein
-
N-myc proto-oncogene protein isoform X1 [Homo sapiens]
N-myc proto-oncogene protein isoform X1 [Homo sapiens]gi|2217328164|ref|XP_047300390.1|Protein
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See more...Assertion and evidence details
Last Updated: Aug 25, 2024