NM_000298.6(PKLR):c.494G>T (p.Gly165Val) AND not provided
- Germline classification:
- Likely pathogenic (1 submission)
- Last evaluated:
- Nov 2, 2022
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV003131216.3
Allele description [Variation Report for NM_000298.6(PKLR):c.494G>T (p.Gly165Val)]
NM_000298.6(PKLR):c.494G>T (p.Gly165Val)
Condition(s)
- Synonyms:
- none provided
- Identifiers:
- MedGen: C3661900
-
centromere protein I isoform 1 [Homo sapiens]
centromere protein I isoform 1 [Homo sapiens]gi|41352697|ref|NP_006724.2|Protein
Your browsing activity is empty.
Activity recording is turned off.
See more...Assertion and evidence details
Last Updated: Mar 16, 2024