NM_006996.3(SLC19A2):c.-2G>A AND Megaloblastic anemia, thiamine-responsive, with diabetes mellitus and sensorineural deafness
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Jan 12, 2018
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV000268197.5
Allele description [Variation Report for NM_006996.3(SLC19A2):c.-2G>A]
NM_006996.3(SLC19A2):c.-2G>A
Condition(s)
- Name:
- Megaloblastic anemia, thiamine-responsive, with diabetes mellitus and sensorineural deafness (TRMA)
- Synonyms:
- Thiamine-responsive anemia syndrome; Rogers syndrome; Thiamine-responsive myelodysplasia; See all synonyms [MedGen]
- Identifiers:
- MONDO: MONDO:0009575; MedGen: C0342287; Orphanet: 49827; OMIM: 249270
-
tyrosine-protein kinase CSK [Mus musculus]
tyrosine-protein kinase CSK [Mus musculus]gi|755571599|ref|NP_001291690.1|Protein
-
Rattus norvegicus strain BN chromosome 17 CRA_213000034399019, whole genome shot...
Rattus norvegicus strain BN chromosome 17 CRA_213000034399019, whole genome shotgun sequencegi|70510810|gb|AAHX01092984.1||gnl| AHX|CRA_213000034399019Nucleotide
-
Mus musculus dual specificity phosphatase 4 (Dusp4), transcript variant 1, mRNA
Mus musculus dual specificity phosphatase 4 (Dusp4), transcript variant 1, mRNAgi|2292593731|ref|NM_176933.5|Nucleotide
-
OB1054 AND (alive[prop]) (0)
Gene
-
glucokinase [Paraburkholderia phenoliruptrix BR3459a]
glucokinase [Paraburkholderia phenoliruptrix BR3459a]gi|407234746|gnl|LNCCBR|BUPH_05402| T84945.1|Protein
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See more...Assertion and evidence details
Last Updated: Oct 14, 2023