NM_000540.3(RYR1):c.7851G>A (p.Ser2617=) AND not specified
- Germline classification:
- Likely benign (1 submission)
- Last evaluated:
- Jul 21, 2016
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV000439897.1
Allele description [Variation Report for NM_000540.3(RYR1):c.7851G>A (p.Ser2617=)]
NM_000540.3(RYR1):c.7851G>A (p.Ser2617=)
Condition(s)
- Synonyms:
- AllHighlyPenetrant
- Identifiers:
- MedGen: CN169374
-
Homo sapiens uncharacterized FLJ38379 (LOC285097), long non-coding RNA
Homo sapiens uncharacterized FLJ38379 (LOC285097), long non-coding RNAgi|1236767278|ref|NR_149023.1|Nucleotide
-
Peptic Ulcer
Peptic UlcerUlcer that occurs in the regions of the GASTROINTESTINAL TRACT which come into contact with GASTRIC JUICE containing PEPSIN and GASTRIC ACID. It occurs when there are defects ...<br/>Year introduced: MARGINAL ULCER was heading 1964-1996 (see under PEPTIC ULCER 1964-1990)MeSH
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Hyperacusis
HyperacusisAn abnormally disproportionate increase in the sensation of loudness in response to auditory stimuli of normal volume. COCHLEAR DISEASES; VESTIBULOCOCHLEAR NERVE DISEASES; FAC...<br/>Year introduced: 2000(1979)MeSH
-
Homologene neighbors for GEO Profiles (Select 74665883) (0)
GEO Profiles
-
Chromosome neighbors for GEO Profiles (Select 74696879) (20)
GEO Profiles
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See more...Assertion and evidence details
Last Updated: May 19, 2024