NM_000492.4(CFTR):c.270del (p.Glu92fs) AND Cystic fibrosis
- Germline classification:
- Pathogenic (1 submission)
- Last evaluated:
- Sep 23, 2022
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV002876893.3
Allele description [Variation Report for NM_000492.4(CFTR):c.270del (p.Glu92fs)]
NM_000492.4(CFTR):c.270del (p.Glu92fs)
Condition(s)
-
aspartyl/asparaginyl beta-hydroxylase [Scomber japonicus]
aspartyl/asparaginyl beta-hydroxylase [Scomber japonicus]gi|2435673023|ref|XP_053186606.1|Protein
-
F-box protein GID2 [Vicia villosa]
F-box protein GID2 [Vicia villosa]gi|2563818093|ref|XP_058786170.1|Protein
-
UI-H-EU1-bai-c-02-0-UI.s1 NCI_CGAP_Ct1 Homo sapiens cDNA clone UI-H-EU1-bai-c-02...
UI-H-EU1-bai-c-02-0-UI.s1 NCI_CGAP_Ct1 Homo sapiens cDNA clone UI-H-EU1-bai-c-02-0-UI 3', mRNA sequencegi|21251154|gnl|dbEST|12559350|gb|B 42.1|Nucleotide
-
LOC105324538 [Magallana gigas]
LOC105324538 [Magallana gigas]Gene ID:105324538Gene
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See more...Assertion and evidence details
Last Updated: Sep 29, 2024