NM_182914.3(SYNE2):c.9974C>T (p.Ala3325Val) AND Emery-Dreifuss muscular dystrophy 5, autosomal dominant
- Germline classification:
- Benign (2 submissions)
- Last evaluated:
- Aug 4, 2023
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV000389240.11
Allele description [Variation Report for NM_182914.3(SYNE2):c.9974C>T (p.Ala3325Val)]
NM_182914.3(SYNE2):c.9974C>T (p.Ala3325Val)
Condition(s)
-
NP_040335 (0)
dbVar
-
Tssr69988 AND (alive[prop]) (0)
Gene
-
Dopamine receptor D3 [Homo sapiens]
Dopamine receptor D3 [Homo sapiens]gi|118764187|gb|AAI28124.1|Protein
-
RC0-HT0022-010799-001-D07 HT0022 Homo sapiens cDNA, mRNA sequence
RC0-HT0022-010799-001-D07 HT0022 Homo sapiens cDNA, mRNA sequencegi|5435670|gnl|dbEST|2904211|gb|AI8 .1|Nucleotide
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See more...Assertion and evidence details
Last Updated: Feb 28, 2024