NM_016579.4(CD320):c.681T>C (p.Thr227=) AND Methylmalonic acidemia due to transcobalamin receptor defect
- Germline classification:
- Likely benign (1 submission)
- Last evaluated:
- Jun 30, 2023
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV003504456.2
Allele description [Variation Report for NM_016579.4(CD320):c.681T>C (p.Thr227=)]
NM_016579.4(CD320):c.681T>C (p.Thr227=)
Condition(s)
- Name:
- Methylmalonic acidemia due to transcobalamin receptor defect (MATR)
- Synonyms:
- METHYLMALONIC ACIDEMIA, TCblR TYPE; Methylmalonic aciduria due to transcobalamin receptor defect; METHYLMALONIC ACIDURIA, TRANSIENT, DUE TO TRANSCOBALAMIN RECEPTOR DEFECT
- Identifiers:
- MONDO: MONDO:0013341; MedGen: C4749905; Orphanet: 280183; OMIM: 613646
-
GSM470592[Accession] (5)
GEO DataSets
-
ye43e03.s1 Soares fetal liver spleen 1NFLS Homo sapiens cDNA clone IMAGE:120508 ...
ye43e03.s1 Soares fetal liver spleen 1NFLS Homo sapiens cDNA clone IMAGE:120508 3', mRNA sequencegi|733935|gnl|dbEST|165432|gb|T9531Nucleotide
-
Psettodes erumei voucher TM zinc finger protein 536 gene, partial cds
Psettodes erumei voucher TM zinc finger protein 536 gene, partial cdsgi|444292059|gb|JQ938623.1|Nucleotide
-
ZF637-3-001526 Zebrafish shield stage whole embryo cDNA library MPMGp637 Danio r...
ZF637-3-001526 Zebrafish shield stage whole embryo cDNA library MPMGp637 Danio rerio cDNA clone MPMGp637_20P11;MPMGp637P1120 5', mRNA sequencegi|16099542|gnl|dbEST|9796179|gb|BI 1.1|Nucleotide
-
fq92c10.y3 zebrafish fin day3 regeneration Danio rerio cDNA clone 4925970 492597...
fq92c10.y3 zebrafish fin day3 regeneration Danio rerio cDNA clone 4925970 4925970 5', mRNA sequencegi|15205009|gnl|dbEST|9243270|gb|BI 7.1|Nucleotide
Your browsing activity is empty.
Activity recording is turned off.
See more...Assertion and evidence details
Last Updated: Oct 8, 2024