NM_001377.3(DYNC2H1):c.4762+20T>C AND Asphyxiating thoracic dystrophy 3
- Germline classification:
- Likely benign (1 submission)
- Last evaluated:
- Jan 3, 2022
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV002494065.1
Allele description [Variation Report for NM_001377.3(DYNC2H1):c.4762+20T>C]
NM_001377.3(DYNC2H1):c.4762+20T>C
Condition(s)
- Name:
- Asphyxiating thoracic dystrophy 3
- Synonyms:
- POLYDACTYLY WITH NEONATAL CHONDRODYSTROPHY, TYPE I; SHORT-RIB THORACIC DYSPLASIA 3/6 WITH POLYDACTYLY, DIGENIC; Short rib polydactyly syndrome 2B; See all synonyms [MedGen]
- Identifiers:
- MONDO: MONDO:0013127; MedGen: C0036069; Orphanet: 474; Orphanet: 93269; Orphanet: 93271; OMIM: 613091
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CHAT [Oryx dammah]
CHAT [Oryx dammah]Gene ID:120865504Gene
-
CHAT [Chelonoidis abingdonii]
CHAT [Chelonoidis abingdonii]Gene ID:116839114Gene
-
Profile neighbors for GEO Profiles (Select 34582815) (187)
GEO Profiles
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Homo sapiens chromosome 9, GRCh38.p14 Primary Assembly
Homo sapiens chromosome 9, GRCh38.p14 Primary Assemblygi|568815589|gnl|ASM:GCF_000001305| |NC_000009.12||gpp|GPC_000001301.1||gnl|NCBI_GENOMES|9Nucleotide
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Homo sapiens ADP-ribosylarginine hydrolase, mRNA (cDNA clone MGC:75486 IMAGE:303...
Homo sapiens ADP-ribosylarginine hydrolase, mRNA (cDNA clone MGC:75486 IMAGE:30374536), complete cdsgi|39645362|gb|BC063883.1|Nucleotide
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Last Updated: Sep 29, 2024