NM_213599.3(ANO5):c.2235+4A>C AND Limb-girdle muscular dystrophy, recessive
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Jun 14, 2016
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV000355429.5
Allele description [Variation Report for NM_213599.3(ANO5):c.2235+4A>C]
NM_213599.3(ANO5):c.2235+4A>C
Condition(s)
- Name:
- Limb-girdle muscular dystrophy, recessive
- Identifiers:
- MedGen: CN239352
-
SRX4101649 (1)
SRA
-
cytochrome oxidase subunit I, partial (mitochondrion) [Stylops crawfordi]
cytochrome oxidase subunit I, partial (mitochondrion) [Stylops crawfordi]gi|614908258|gb|AHX58807.1|Protein
-
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See more...Assertion and evidence details
Last Updated: Sep 29, 2024