NM_001985.3(ETFB):c.671_672del (p.Val224fs) AND Multiple acyl-CoA dehydrogenase deficiency
- Germline classification:
- Likely pathogenic (1 submission)
- Last evaluated:
- Jul 25, 2023
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV003476356.1
Allele description [Variation Report for NM_001985.3(ETFB):c.671_672del (p.Val224fs)]
NM_001985.3(ETFB):c.671_672del (p.Val224fs)
Condition(s)
- Name:
- Multiple acyl-CoA dehydrogenase deficiency (MADD)
- Synonyms:
- GA II; Ethylmalonic-adipicaciduria; Glutaric aciduria, type 2; See all synonyms [MedGen]
- Identifiers:
- MONDO: MONDO:0009282; MedGen: C0268596; Orphanet: 26791; OMIM: 231680
-
BX106119 Soares fetal liver spleen 1NFLS Homo sapiens cDNA clone IMAGp998B21396;...
BX106119 Soares fetal liver spleen 1NFLS Homo sapiens cDNA clone IMAGp998B21396; IMAGE:204596 5', mRNA sequencegi|27833923|gnl|dbEST|16739741|emb| 119.1|Nucleotide
-
MULTISPECIES: hypothetical protein [unclassified Pasteurella]
MULTISPECIES: hypothetical protein [unclassified Pasteurella]gi|1607065221|ref|WP_135094858.1|Protein
-
MAG: Alloalcanivorax sp. isolate CI.40.F.D2_503_60, whole genome shotgun sequenc...
MAG: Alloalcanivorax sp. isolate CI.40.F.D2_503_60, whole genome shotgun sequencing projectgi|2737748299|gb|JBDWVU000000000.1| U010000000Nucleotide
-
qg14d08.x1 Soares_placenta_8to9weeks_2NbHP8to9W Homo sapiens cDNA clone IMAGE:17...
qg14d08.x1 Soares_placenta_8to9weeks_2NbHP8to9W Homo sapiens cDNA clone IMAGE:1759503 3' similar to contains element TAR1 repetitive element, mRNA sequencegi|3801556|gnl|dbEST|1990338|gb|AI2 .1|Nucleotide
-
JM334
JM334biosample
Your browsing activity is empty.
Activity recording is turned off.
See more...Assertion and evidence details
Last Updated: Dec 30, 2023