NM_033409.4(SLC52A3):c.597C>T (p.Leu199=) AND Brown-Vialetto-van Laere syndrome 1
- Germline classification:
- Likely benign (1 submission)
- Last evaluated:
- Dec 23, 2023
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV001400208.7
Allele description [Variation Report for NM_033409.4(SLC52A3):c.597C>T (p.Leu199=)]
NM_033409.4(SLC52A3):c.597C>T (p.Leu199=)
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
-
single-stranded DNA-binding protein 2 isoform 38 [Homo sapiens]
single-stranded DNA-binding protein 2 isoform 38 [Homo sapiens]gi|2181862489|ref|NP_001387304.1|Protein
-
Homo sapiens single stranded DNA binding protein 2 (SSBP2), transcript variant 2...
Homo sapiens single stranded DNA binding protein 2 (SSBP2), transcript variant 21, mRNAgi|2181862382|ref|NM_001400350.1|Nucleotide
-
Homo sapiens single stranded DNA binding protein 2 (SSBP2), transcript variant 4...
Homo sapiens single stranded DNA binding protein 2 (SSBP2), transcript variant 4, mRNAgi|2026128101|ref|NM_001256734.3|Nucleotide
-
Homo sapiens single stranded DNA binding protein 2 (SSBP2), transcript variant 1...
Homo sapiens single stranded DNA binding protein 2 (SSBP2), transcript variant 11, mRNAgi|2181862389|ref|NM_001400340.1|Nucleotide
-
PREDICTED: Macaca fascicularis ectopic P-granules 5 autophagy tethering factor (...
PREDICTED: Macaca fascicularis ectopic P-granules 5 autophagy tethering factor (EPG5), transcript variant X3, mRNAgi|2739265931|ref|XM_005586808.4|Nucleotide
Your browsing activity is empty.
Activity recording is turned off.
See more...Assertion and evidence details
Last Updated: Sep 29, 2024