NM_005359.6(SMAD4):c.89G>T (p.Gly30Val) AND Juvenile polyposis syndrome
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Sep 7, 2023
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV003597022.1
Allele description [Variation Report for NM_005359.6(SMAD4):c.89G>T (p.Gly30Val)]
NM_005359.6(SMAD4):c.89G>T (p.Gly30Val)
Condition(s)
-
Homo sapiens enhancer of zeste 2 polycomb repressive complex 2 subunit (EZH2), t...
Homo sapiens enhancer of zeste 2 polycomb repressive complex 2 subunit (EZH2), transcript variant 1, mRNAgi|1732746237|ref|NM_004456.5|Nucleotide
-
GAGE12J AND (alive[prop]) (3)
Gene
-
TMEM254 AND (alive[prop]) (675)
Gene
-
ACADVL AND (alive[prop]) (992)
Gene
-
BORCS6 AND (alive[prop]) (1171)
Gene
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Last Updated: Feb 20, 2024