NM_001130987.2(DYSF):c.110_111del (p.Lys37fs) AND DYSF-related disorder
- Germline classification:
- Pathogenic (1 submission)
- Last evaluated:
- Apr 26, 2023
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV003415847.4
Allele description [Variation Report for NM_001130987.2(DYSF):c.110_111del (p.Lys37fs)]
NM_001130987.2(DYSF):c.110_111del (p.Lys37fs)
Condition(s)
- Name:
- DYSF-related disorder
- Synonyms:
- DYSF-related condition; DYSF-Related Disorders; DYSF- Related Disorder
- Identifiers:
-
AGENCOURT_103359726 NICHD_XGC_tropInt_63 Xenopus tropicalis cDNA clone IMAGE:895...
AGENCOURT_103359726 NICHD_XGC_tropInt_63 Xenopus tropicalis cDNA clone IMAGE:8958889 5', mRNA sequencegi|126530626|gnl|dbEST|45048628|gb| 351.1|Nucleotide
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See more...Assertion and evidence details
Last Updated: Sep 29, 2024