NM_000338.3(SLC12A1):c.1614T>C (p.Tyr538=) AND Bartter disease type 1
- Germline classification:
- Benign (1 submission)
- Last evaluated:
- Jan 13, 2018
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV000287873.5
Allele description [Variation Report for NM_000338.3(SLC12A1):c.1614T>C (p.Tyr538=)]
NM_000338.3(SLC12A1):c.1614T>C (p.Tyr538=)
Condition(s)
-
Beta-Methylcrotonylglycinuria
Beta-MethylcrotonylglycinuriaMedGen
Your browsing activity is empty.
Activity recording is turned off.
See more...Assertion and evidence details
Last Updated: May 7, 2024