NM_000540.3(RYR1):c.12813C>T (p.Gly4271=) AND RYR1-related disorder
- Germline classification:
- Likely benign (1 submission)
- Last evaluated:
- Nov 20, 2023
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV002210009.8
Allele description [Variation Report for NM_000540.3(RYR1):c.12813C>T (p.Gly4271=)]
NM_000540.3(RYR1):c.12813C>T (p.Gly4271=)
Condition(s)
- Name:
- RYR1-related disorder
- Synonyms:
- RYR1-Related Disorders; RYR1-related condition
- Identifiers:
- MedGen: CN239331
-
Protein AATF [Zootermopsis nevadensis]
Protein AATF [Zootermopsis nevadensis]gi|646709343|gb|KDR15251.1||gnl|WGS |L798_10624Protein
-
CR433301 XGC-tailbud Xenopus tropicalis cDNA clone TTbA041c05 5', mRNA sequence
CR433301 XGC-tailbud Xenopus tropicalis cDNA clone TTbA041c05 5', mRNA sequencegi|48958888|gnl|dbEST|23827516|emb| 301.1|Nucleotide
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See more...Assertion and evidence details
Last Updated: Sep 29, 2024