NM_002451.4(MTAP):c.179+12T>A AND Diaphyseal medullary stenosis-bone malignancy syndrome
- Germline classification:
- Benign/Likely benign (2 submissions)
- Last evaluated:
- Jul 7, 2023
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV000309806.6
Allele description [Variation Report for NM_002451.4(MTAP):c.179+12T>A]
NM_002451.4(MTAP):c.179+12T>A
Condition(s)
- Name:
- Diaphyseal medullary stenosis-bone malignancy syndrome
- Synonyms:
- Diaphyseal medullary stenosis with malignant fibrous histiocytoma; Bone dysplasia with medullary fibrosarcoma; Bone dysplasia with malignant fibrous histiocytoma; See all synonyms [MedGen]
- Identifiers:
- MONDO: MONDO:0007205; MedGen: C1862177; OMIM: 112250
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Mchenga eucinostomus isolate O47CEUCI D-loop, partial sequence; mitochondrial
Mchenga eucinostomus isolate O47CEUCI D-loop, partial sequence; mitochondrialgi|151176966|gb|EF647581.1|Nucleotide
-
Copadichromis sp. 'stripe' isolate O4CSTRIP D-loop, partial sequence; mitochondr...
Copadichromis sp. 'stripe' isolate O4CSTRIP D-loop, partial sequence; mitochondrialgi|151176960|gb|EF647575.1|Nucleotide
-
CCAX9481.g1 NICHD_XGC_tropEye1 Xenopus tropicalis cDNA clone IMAGE:8851678 3', m...
CCAX9481.g1 NICHD_XGC_tropEye1 Xenopus tropicalis cDNA clone IMAGE:8851678 3', mRNA sequencegi|148867086|gnl|dbEST|46896074|gb| 564.1|Nucleotide
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See more...Assertion and evidence details
Last Updated: Dec 24, 2023