NM_000492.4(CFTR):c.532G>A (p.Gly178Arg) AND CFTR-related disorder
- Germline classification:
- Pathogenic (1 submission)
- Last evaluated:
- Mar 17, 2017
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV001831713.8
Allele description [Variation Report for NM_000492.4(CFTR):c.532G>A (p.Gly178Arg)]
NM_000492.4(CFTR):c.532G>A (p.Gly178Arg)
Condition(s)
- Name:
- CFTR-related disorder (CFTR-RD)
- Synonyms:
- CFTR-related disorders; CFTR-related condition
- Identifiers:
-
Chromosome neighbors for GEO Profiles (Select 132378465) (20)
GEO Profiles
-
Chromosome neighbors for GEO Profiles (Select 132495711) (20)
GEO Profiles
Your browsing activity is empty.
Activity recording is turned off.
See more...Assertion and evidence details
Last Updated: Aug 11, 2024