NM_000535.7(PMS2):c.214_215insAAGTTTCA (p.Gly72fs) AND Lynch syndrome 4
- Germline classification:
- Pathogenic (1 submission)
- Last evaluated:
- Sep 18, 2023
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV003449835.1
Allele description [Variation Report for NM_000535.7(PMS2):c.214_215insAAGTTTCA (p.Gly72fs)]
NM_000535.7(PMS2):c.214_215insAAGTTTCA (p.Gly72fs)
Condition(s)
-
Homo sapiens growth hormone regulated TBC protein 1, mRNA (cDNA clone IMAGE:3641...
Homo sapiens growth hormone regulated TBC protein 1, mRNA (cDNA clone IMAGE:3641318), partial cdsgi|34783441|gb|BC033071.2|Nucleotide
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See more...Assertion and evidence details
Last Updated: Jun 2, 2024