NM_153766.3(KCNJ1):c.578G>C (p.Arg193Pro) AND Bartter disease type 2
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Mar 25, 2022
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV002489601.1
Allele description [Variation Report for NM_153766.3(KCNJ1):c.578G>C (p.Arg193Pro)]
NM_153766.3(KCNJ1):c.578G>C (p.Arg193Pro)
Condition(s)
-
Homo sapiens poly(ADP-ribose) polymerase family member 6 (PARP6), transcript var...
Homo sapiens poly(ADP-ribose) polymerase family member 6 (PARP6), transcript variant 25, non-coding RNAgi|1701108694|ref|NR_136610.2|Nucleotide
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Last Updated: Sep 29, 2024