NM_000117.3(EMD):c.576C>G (p.Ser192=) AND X-linked Emery-Dreifuss muscular dystrophy
- Germline classification:
- Likely benign (1 submission)
- Last evaluated:
- May 15, 2023
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV003104824.6
Allele description [Variation Report for NM_000117.3(EMD):c.576C>G (p.Ser192=)]
NM_000117.3(EMD):c.576C>G (p.Ser192=)
Condition(s)
-
cytochrome oxidase subunit 1, partial (mitochondrion) [Aphileta misera]
cytochrome oxidase subunit 1, partial (mitochondrion) [Aphileta misera]gi|1393847720|gb|AWN95507.1|Protein
-
SRX257603 (1)
SRA
-
Ictalurus punctatus cleavage and polyadenylation specific factor 4 (cpsf4), mRNA
Ictalurus punctatus cleavage and polyadenylation specific factor 4 (cpsf4), mRNAgi|318187061|ref|NM_001200839.1|Nucleotide
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See more...Assertion and evidence details
Last Updated: Sep 29, 2024