NM_000492.4(CFTR):c.134C>G (p.Ser45Cys) AND CFTR-related disorder
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Dec 9, 2019
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV001828606.1
Allele description [Variation Report for NM_000492.4(CFTR):c.134C>G (p.Ser45Cys)]
NM_000492.4(CFTR):c.134C>G (p.Ser45Cys)
Condition(s)
- Name:
- CFTR-related disorder (CFTR-RD)
- Synonyms:
- CFTR-related disorders; CFTR-related condition
- Identifiers:
-
Profile neighbors for GEO Profiles (Select 5237897) (68)
GEO Profiles
-
UI-M-AP1-agm-b-07-0-UI.s1 NIH_BMAP_MST_N Mus musculus cDNA clone UI-M-AP1-agm-b-...
UI-M-AP1-agm-b-07-0-UI.s1 NIH_BMAP_MST_N Mus musculus cDNA clone UI-M-AP1-agm-b-07-0-UI 3', mRNA sequencegi|5491581|gnl|dbEST|2935995|gb|AI8 .1|Nucleotide
-
Chromosome neighbors for GEO Profiles (Select 5236094) (20)
GEO Profiles
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Chromosome neighbors for GEO Profiles (Select 5243911) (18)
GEO Profiles
-
Tgm3 transglutaminase 3, E polypeptide [Mus musculus]
Tgm3 transglutaminase 3, E polypeptide [Mus musculus]Gene ID:21818Gene
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Last Updated: May 19, 2024