NM_013296.5(GPSM2):c.1263+11G>A 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:
- RCV000330082.13
Allele description [Variation Report for NM_013296.5(GPSM2):c.1263+11G>A]
NM_013296.5(GPSM2):c.1263+11G>A
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
-
GSM2335295[Accession] (3)
GEO DataSets
-
AN [Arabidopsis thaliana]
AN [Arabidopsis thaliana]Gene ID:839401Gene
-
angustifolia[gene] AND (achillea[orgn] OR achillea millefolium[or... (1)
angustifolia[gene] AND (achillea[orgn] OR achillea millefolium[orgn] OR aconitum[orgn] OR atropa[orgn] OR atropa belladonna[orgn] OR belladonna[orgn] OR calendula[orgn] OR calendula officinalis[orgn] OR echinacea[orgn] OR echinacea angustifolia[orgn] OR echinacea purpurea[orgn] OR hamamelis[orgn] OR hypericum[orgn] OR root[orgn]) AND alive[prop] NOT newentry[gene] AND (alive[prop])SearchGene
-
C2675520[trait identifier] AND "Shiraz Institute for Cancer Resea... (1)
C2675520[trait identifier] AND "Shiraz Institute for Cancer Research, Shiraz University of Medical Sciences"[submitter]SearchClinVar
Your browsing activity is empty.
Activity recording is turned off.
See more...Assertion and evidence details
Last Updated: May 12, 2024