NM_000492.4(CFTR):c.39C>T (p.Ser13=) AND Cystic fibrosis
- Germline classification:
- Likely benign (1 submission)
- Last evaluated:
- May 1, 2022
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV002357793.2
Allele description [Variation Report for NM_000492.4(CFTR):c.39C>T (p.Ser13=)]
NM_000492.4(CFTR):c.39C>T (p.Ser13=)
Condition(s)
-
Ifih1 protein [Mus musculus]
Ifih1 protein [Mus musculus]gi|51329784|gb|AAH80200.1|Protein
-
ras association domain-containing protein 2 [Homo sapiens]
ras association domain-containing protein 2 [Homo sapiens]gi|25777677|ref|NP_739580.1|Protein
-
Crassulaceae maturase K (matK) gene, partial cds; chloroplast.
Crassulaceae maturase K (matK) gene, partial cds; chloroplast.PopSet: 1218185834PopSet
-
PopSet Links for Protein (Select 1218185903) (1)
PopSet
-
PSMD1 proteasome 26S subunit, non-ATPase 1 [Homo sapiens]
PSMD1 proteasome 26S subunit, non-ATPase 1 [Homo sapiens]Gene ID:5707Gene
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See more...Assertion and evidence details
Last Updated: May 1, 2024