NM_000337.6(SGCD):c.458A>G (p.Asp153Gly) AND Autosomal recessive limb-girdle muscular dystrophy type 2F
- Germline classification:
- Uncertain significance (2 submissions)
- Last evaluated:
- Feb 8, 2023
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV000458794.7
Allele description [Variation Report for NM_000337.6(SGCD):c.458A>G (p.Asp153Gly)]
NM_000337.6(SGCD):c.458A>G (p.Asp153Gly)
Condition(s)
- Name:
- Autosomal recessive limb-girdle muscular dystrophy type 2F (LGMDR6)
- Synonyms:
- Limb-girdle muscular dystrophy, type 2F; Muscular dystrophy limb-girdle with delta-sarcoglyan deficiency; MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL RECESSIVE 6
- Identifiers:
- MONDO: MONDO:0011028; MedGen: C1832525; Orphanet: 219; OMIM: 601287
-
NP_311106 AND 1[s_discriminator] (0)
dbGaP
-
LOC105630768 [Jatropha curcas]
LOC105630768 [Jatropha curcas]Gene ID:105630768Gene
-
DHCR24 [Bison bison bison]
DHCR24 [Bison bison bison]Gene ID:104993741Gene
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See more...Assertion and evidence details
Last Updated: Sep 29, 2024