NM_003494.3(DYSF):c.2779del (p.Ala927Leufs) AND Autosomal recessive limb-girdle muscular dystrophy type 2B
- Germline classification:
- Pathogenic (2 submissions)
- Last evaluated:
- Sep 16, 2020
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV000007072.11
Allele description [Variation Report for NM_003494.3(DYSF):c.2779del (p.Ala927Leufs)]
NM_003494.3(DYSF):c.2779del (p.Ala927Leufs)
Condition(s)
-
Major facilitator superfamily protein [Arabidopsis thaliana]
Major facilitator superfamily protein [Arabidopsis thaliana]gi|30678455|ref|NP_850497.1|Protein
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See more...Assertion and evidence details
Last Updated: Oct 20, 2024