NM_138694.4(PKHD1):c.10181G>A (p.Cys3394Tyr) AND not specified
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Apr 25, 2022
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV002238677.1
Allele description [Variation Report for NM_138694.4(PKHD1):c.10181G>A (p.Cys3394Tyr)]
NM_138694.4(PKHD1):c.10181G>A (p.Cys3394Tyr)
Condition(s)
- Synonyms:
- AllHighlyPenetrant
- Identifiers:
- MedGen: CN169374
-
Homo sapiens family with sequence similarity 62 (C2 domain containing), member A...
Homo sapiens family with sequence similarity 62 (C2 domain containing), member A, mRNA (cDNA clone MGC:4422 IMAGE:2958094), complete cdsgi|13436457|gb|BC004998.1|Nucleotide
Your browsing activity is empty.
Activity recording is turned off.
See more...Assertion and evidence details
Last Updated: Sep 29, 2024