NM_017617.5(NOTCH1):c.5362G>A (p.Gly1788Ser) AND Adams-Oliver syndrome 5
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Jul 11, 2022
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV001243985.6
Allele description [Variation Report for NM_017617.5(NOTCH1):c.5362G>A (p.Gly1788Ser)]
NM_017617.5(NOTCH1):c.5362G>A (p.Gly1788Ser)
Condition(s)
-
Tssr71395 AND (alive[prop]) (0)
Gene
-
DC387668 SMINT2 Homo sapiens cDNA clone SMINT2003091 5', mRNA sequence
DC387668 SMINT2 Homo sapiens cDNA clone SMINT2003091 5', mRNA sequencegi|146062587|gnl|dbEST|46555471|dbj 7668.1|Nucleotide
-
tnaA [Escherichia coli DSM 30083 = JCM 1649 = ATCC 11775]
tnaA [Escherichia coli DSM 30083 = JCM 1649 = ATCC 11775]Gene ID:49587026Gene
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See more...Assertion and evidence details
Last Updated: Feb 20, 2024