NM_004006.3(DMD):c.5048del (p.Thr1683fs) AND Duchenne muscular dystrophy
- Germline classification:
- Pathogenic (1 submission)
- Last evaluated:
- Jun 3, 2023
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV003512202.2
Allele description [Variation Report for NM_004006.3(DMD):c.5048del (p.Thr1683fs)]
NM_004006.3(DMD):c.5048del (p.Thr1683fs)
Condition(s)
-
putative polygalacturonase [Oryza sativa Japonica Group]
putative polygalacturonase [Oryza sativa Japonica Group]gi|51091399|dbj|BAD36142.1|Protein
-
polygalacturonase [Cryptococcus neoformans var. grubii H99]
polygalacturonase [Cryptococcus neoformans var. grubii H99]gi|540386007|gnl|WGS:AACO|CNAG_0175 AFR97960.2|Protein
-
maturase K, partial (chloroplast) [Hypodematium chrysolepis]
maturase K, partial (chloroplast) [Hypodematium chrysolepis]gi|2131286071|gb|UEN69268.1|Protein
-
LOC100282607 [Zea mays]
LOC100282607 [Zea mays]Gene ID:100282607Gene
-
N7525_011555 [Penicillium rubens]
N7525_011555 [Penicillium rubens]Gene ID:8315341Gene
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See more...Assertion and evidence details
Last Updated: Sep 29, 2024