NM_013296.5(GPSM2):c.-397C>G AND Chudley-McCullough syndrome
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Jan 13, 2018
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV000293161.5
Allele description [Variation Report for NM_013296.5(GPSM2):c.-397C>G]
NM_013296.5(GPSM2):c.-397C>G
Condition(s)
- Name:
- Chudley-McCullough syndrome (CMCS)
- Synonyms:
- Deafness, sensorineural, with partial agenesis of the corpus callosum and arachnoid cysts; Deafness, bilateral sensorineural, and hydrocephalus due to foramen of monro obstruction; Deafness, autosomal recessive 82
- Identifiers:
- MONDO: MONDO:0011411; MedGen: C1858695; Orphanet: 314597; OMIM: 604213
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JGI_XZT38975.fwd NIH_XGC_tropTad5 Xenopus tropicalis cDNA clone IMAGE:7615321 5'...
JGI_XZT38975.fwd NIH_XGC_tropTad5 Xenopus tropicalis cDNA clone IMAGE:7615321 5', mRNA sequencegi|74094211|gnl|dbEST|31259585|gb|C 35.2|Nucleotide
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See more...Assertion and evidence details
Last Updated: Oct 14, 2023