NM_020848.4(JCAD):c.3422C>G (p.Ser1141Cys) AND not specified
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Jun 9, 2022
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV004401205.1
Allele description [Variation Report for NM_020848.4(JCAD):c.3422C>G (p.Ser1141Cys)]
NM_020848.4(JCAD):c.3422C>G (p.Ser1141Cys)
Condition(s)
- Synonyms:
- AllHighlyPenetrant
- Identifiers:
- MedGen: CN169374
-
UTP--glucose-1-phosphate uridylyltransferase isoform X1 [Bos taurus]
UTP--glucose-1-phosphate uridylyltransferase isoform X1 [Bos taurus]gi|1387197325|ref|XP_024854033.1|Protein
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yd23h10.s1 Soares fetal liver spleen 1NFLS Homo sapiens cDNA clone IMAGE:109123 ...
yd23h10.s1 Soares fetal liver spleen 1NFLS Homo sapiens cDNA clone IMAGE:109123 3', mRNA sequencegi|703864|gnl|dbEST|143364|gb|T8097Nucleotide
-
Homo sapiens cysteine-rich with EGF-like domains 1, mRNA (cDNA clone MGC:8447 IM...
Homo sapiens cysteine-rich with EGF-like domains 1, mRNA (cDNA clone MGC:8447 IMAGE:2821362), complete cdsgi|33870780|gb|BC008720.2|Nucleotide
-
Steroid 11-beta-Hydroxylase
Steroid 11-beta-HydroxylaseA mitochondrial cytochrome P450 enzyme that catalyzes the 11-beta-hydroxylation of steroids in the presence of molecular oxygen and NADPH-FERRIHEMOPROTEIN REDUCTASE. This enzy...<br/>Year introduced: 2003 (1978)MeSH
-
Essential pentosuria
Essential pentosuriaMedGen
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Last Updated: May 7, 2024