NM_017617.5(NOTCH1):c.6577A>G (p.Ser2193Gly) AND Adams-Oliver syndrome 5
- Germline classification:
- Conflicting interpretations of pathogenicity (2 submissions)
- Last evaluated:
- Aug 1, 2023
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV000472324.10
Allele description [Variation Report for NM_017617.5(NOTCH1):c.6577A>G (p.Ser2193Gly)]
NM_017617.5(NOTCH1):c.6577A>G (p.Ser2193Gly)
Condition(s)
-
PREDICTED: Homo sapiens non-SMC condensin II complex subunit G2 (NCAPG2), transc...
PREDICTED: Homo sapiens non-SMC condensin II complex subunit G2 (NCAPG2), transcript variant X6, mRNAgi|2217367611|ref|XM_047420542.1|Nucleotide
-
PREDICTED: Homo sapiens non-SMC condensin II complex subunit G2 (NCAPG2), transc...
PREDICTED: Homo sapiens non-SMC condensin II complex subunit G2 (NCAPG2), transcript variant X3, mRNAgi|2217367605|ref|XM_047420539.1|Nucleotide
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Last Updated: Feb 28, 2024