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
-
cytochrome oxidase subunit I, partial (mitochondrion) [Lepeophtheirus salmonis]
cytochrome oxidase subunit I, partial (mitochondrion) [Lepeophtheirus salmonis]gi|47934406|gb|AAT39639.1|Protein
-
PBANKA_093390 [Plasmodium berghei ANKA]
PBANKA_093390 [Plasmodium berghei ANKA]Gene ID:3424194Gene
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See more...Assertion and evidence details
Last Updated: May 1, 2024