NM_000492.4(CFTR):c.1766+2T>C AND Cystic fibrosis
- Germline classification:
- Pathogenic/Likely pathogenic (3 submissions)
- Last evaluated:
- Apr 13, 2023
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV000674906.3
Allele description [Variation Report for NM_000492.4(CFTR):c.1766+2T>C]
NM_000492.4(CFTR):c.1766+2T>C
Condition(s)
-
Photobacterium iliopiscarium strain NCIMB 13355 CFSAN065522_56, whole genome sho...
Photobacterium iliopiscarium strain NCIMB 13355 CFSAN065522_56, whole genome shotgun sequencegi|1374324255|ref|NZ_PYLU01000056.1 |WGS:NZ_PYLU01|CFSAN065522_56Nucleotide
-
PREDICTED: Mus musculus Parkinson disease (autosomal recessive, early onset) 7 (...
PREDICTED: Mus musculus Parkinson disease (autosomal recessive, early onset) 7 (Park7), transcript variant X1, mRNAgi|1907156745|ref|XM_036164283.1|Nucleotide
-
ninein isoform 2 [Homo sapiens]
ninein isoform 2 [Homo sapiens]gi|1843978526|ref|NP_065972.4|Protein
-
Homologene neighbors for GEO Profiles (Select 105398904) (0)
GEO Profiles
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Profile neighbors for GEO Profiles (Select 123010530) (200)
GEO Profiles
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See more...Assertion and evidence details
Last Updated: Jun 17, 2024