NM_033409.4(SLC52A3):c.562G>A (p.Ala188Thr) AND Brown-Vialetto-van Laere syndrome 1
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Apr 5, 2022
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV002029381.3
Allele description [Variation Report for NM_033409.4(SLC52A3):c.562G>A (p.Ala188Thr)]
NM_033409.4(SLC52A3):c.562G>A (p.Ala188Thr)
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
-
Megamonas funiformis CAG:377, whole genome shotgun sequencing project
Megamonas funiformis CAG:377, whole genome shotgun sequencing projectgi|524452093|emb|CBEL000000000.1|CB 000000Nucleotide
-
Caenorhabditis elegans Integral membrane protein 2 (itm-2), partial mRNA
Caenorhabditis elegans Integral membrane protein 2 (itm-2), partial mRNAgi|1845979771|ref|NM_171687.6|Nucleotide
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See more...Assertion and evidence details
Last Updated: Feb 28, 2024