NM_000535.7(PMS2):c.2404C>T (p.Arg802Ter) AND PMS2-related disorder
- Germline classification:
- Pathogenic (1 submission)
- Last evaluated:
- May 4, 2023
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV003415681.4
Allele description [Variation Report for NM_000535.7(PMS2):c.2404C>T (p.Arg802Ter)]
NM_000535.7(PMS2):c.2404C>T (p.Arg802Ter)
Condition(s)
- Name:
- PMS2-related disorder
- Synonyms:
- PMS2-related condition
- Identifiers:
-
Homo sapiens serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitr...
Homo sapiens serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 3, mRNA (cDNA clone IMAGE:3925035), partial cdsgi|15341984|gb|BC013189.1|Nucleotide
-
Homologene neighbors for GEO Profiles (Select 113041074) (0)
GEO Profiles
-
Chromosome neighbors for GEO Profiles (Select 113037228) (20)
GEO Profiles
-
DC030491 Osada Taira anterior endomesoderm (AEM) pCS105 cDNA library Xenopus lae...
DC030491 Osada Taira anterior endomesoderm (AEM) pCS105 cDNA library Xenopus laevis cDNA clone rxlk159l23ex 3', mRNA sequencegi|118979626|gnl|dbEST|43280149|dbj 0491.1|Nucleotide
-
GPR35 G protein-coupled receptor 35 [Canis lupus familiaris]
GPR35 G protein-coupled receptor 35 [Canis lupus familiaris]Gene ID:100855802Gene
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Last Updated: Oct 8, 2024