NM_000116.5(TAFAZZIN):c.697C>T (p.Gln233Ter) AND 3-Methylglutaconic aciduria type 2
- Germline classification:
- Pathogenic (1 submission)
- Last evaluated:
- Dec 22, 2018
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV000819778.4
Allele description [Variation Report for NM_000116.5(TAFAZZIN):c.697C>T (p.Gln233Ter)]
NM_000116.5(TAFAZZIN):c.697C>T (p.Gln233Ter)
Condition(s)
- Name:
- 3-Methylglutaconic aciduria type 2 (BTHS)
- Synonyms:
- Barth syndrome; 3-methylglutaconicaciduria type II; MGA type II; See all synonyms [MedGen]
- Identifiers:
- MONDO: MONDO:0010543; MedGen: C0574083; Orphanet: 111; OMIM: 302060
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Rattus norvegicus Rho GTPase activating protein 24, mRNA (cDNA clone MGC:93797 I...
Rattus norvegicus Rho GTPase activating protein 24, mRNA (cDNA clone MGC:93797 IMAGE:7109913), complete cdsgi|55249718|gb|BC085797.1|Nucleotide
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AHCTF1 AT-hook containing transcription factor 1 [Gallus gallus]
AHCTF1 AT-hook containing transcription factor 1 [Gallus gallus]Gene ID:421484Gene
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Last Updated: Oct 8, 2024