NM_020297.4(ABCC9):c.1979G>A (p.Arg660Gln) AND multiple conditions
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Sep 23, 2021
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV002497123.1
Allele description [Variation Report for NM_020297.4(ABCC9):c.1979G>A (p.Arg660Gln)]
NM_020297.4(ABCC9):c.1979G>A (p.Arg660Gln)
Condition(s)
- Name:
- Hypertrichotic osteochondrodysplasia Cantu type
- Synonyms:
- Hypertrichotic osteochondrodysplasia; Cantu syndrome
- Identifiers:
- MONDO: MONDO:0009406; MedGen: C0795905; Orphanet: 1517; OMIM: 239850
- Name:
- Dilated cardiomyopathy 1O (CMD1O)
- Synonyms:
- CARDIOMYOPATHY, DILATED, WITH VENTRICULAR TACHYCARDIA
- Identifiers:
- MONDO: MONDO:0012062; MedGen: C1837839; Orphanet: 154; OMIM: 608569
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Taxonomy Links for Nucleotide (Select 2217301629) (1)
Taxonomy
-
520522[uid] (1)
Taxonomy
-
ascorbic acid oxidase, partial [Capsicum annuum]
ascorbic acid oxidase, partial [Capsicum annuum]gi|6969391|gb|AAF33751.1|Protein
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Anopheles funestus NADH dehydrogenase subunit 5 (ND5) gene, partial cds; mitocho...
Anopheles funestus NADH dehydrogenase subunit 5 (ND5) gene, partial cds; mitochondrial.PopSet: 57341210PopSet
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txid62324[orgn] AND "isolate 265"[All Fields] (1)
PopSet
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See more...Assertion and evidence details
Last Updated: May 1, 2024