NM_001022.4(RPS19):c.317C>T (p.Ala106Val) AND Diamond-Blackfan anemia
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Aug 31, 2022
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV001231511.8
Allele description [Variation Report for NM_001022.4(RPS19):c.317C>T (p.Ala106Val)]
NM_001022.4(RPS19):c.317C>T (p.Ala106Val)
Condition(s)
- Name:
- Diamond-Blackfan anemia
- Synonyms:
- Blackfan Diamond syndrome; Anemia congenital erythroid hypoplastic; Aregenerative anemia chronic congenital; See all synonyms [MedGen]
- Identifiers:
- MONDO: MONDO:0015253; MeSH: D029503; MedGen: C1260899; Orphanet: 124; OMIM: PS105650; Human Phenotype Ontology: HP:0004810
-
Oryza sativa Japonica Group homeobox-leucine zipper protein HOX6-like (LOC434764...
Oryza sativa Japonica Group homeobox-leucine zipper protein HOX6-like (LOC4347647), mRNAgi|2528607260|ref|NM_001422912.1|Nucleotide
-
PREDICTED: Biomphalaria glabrata polypeptide N-acetylgalactosaminyltransferase 1...
PREDICTED: Biomphalaria glabrata polypeptide N-acetylgalactosaminyltransferase 11-like (LOC106055667), transcript variant X6, mRNAgi|2502133480|ref|XM_056013186.1|Nucleotide
-
polypeptide N-acetylgalactosaminyltransferase 11-like [Biomphalaria glabrata]
polypeptide N-acetylgalactosaminyltransferase 11-like [Biomphalaria glabrata]gi|2502133479|ref|XP_055869160.1|Protein
-
PREDICTED: beta-1,4-mannosyl-glycoprotein 4-beta-N-acetylglucosaminyltransferase...
PREDICTED: beta-1,4-mannosyl-glycoprotein 4-beta-N-acetylglucosaminyltransferase [Balearica regulorum gibbericeps]gi|723569311|ref|XP_010304842.1|Protein
-
JGI_XZG27080.fwd NIH_XGC_tropGas7 Xenopus tropicalis cDNA clone IMAGE:7542748 5'...
JGI_XZG27080.fwd NIH_XGC_tropGas7 Xenopus tropicalis cDNA clone IMAGE:7542748 5', mRNA sequencegi|73908110|gnl|dbEST|31152256|gb|C 04.2|Nucleotide
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Last Updated: Sep 29, 2024