NM_033409.4(SLC52A3):c.833C>T (p.Thr278Met) AND Brown-Vialetto-van Laere syndrome 1
- Germline classification:
- Benign (1 submission)
- Last evaluated:
- Feb 1, 2024
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV001523331.7
Allele description [Variation Report for NM_033409.4(SLC52A3):c.833C>T (p.Thr278Met)]
NM_033409.4(SLC52A3):c.833C>T (p.Thr278Met)
Condition(s)
- Name:
- Brown-Vialetto-van Laere syndrome 1
- Synonyms:
- BULBAR PALSY, PROGRESSIVE, WITH SENSORINEURAL DEAFNESS; PONTOBULBAR PALSY WITH DEAFNESS; Pontobulbar palsy and neurosensory deafness; See all synonyms [MedGen]
- Identifiers:
- MONDO: MONDO:0024537; MedGen: C0796274; Orphanet: 97229; OMIM: 211530
-
Mus musculus prostaglandin reductase 2 (Ptgr2), transcript variant 2, mRNA
Mus musculus prostaglandin reductase 2 (Ptgr2), transcript variant 2, mRNAgi|357933644|ref|NM_001252625.1|Nucleotide
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See more...Assertion and evidence details
Last Updated: Sep 29, 2024