NM_001999.4(FBN2):c.4274G>A (p.Cys1425Tyr) AND not provided
- Germline classification:
- Likely pathogenic (1 submission)
- Last evaluated:
- Apr 28, 2023
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV003441528.1
Allele description [Variation Report for NM_001999.4(FBN2):c.4274G>A (p.Cys1425Tyr)]
NM_001999.4(FBN2):c.4274G>A (p.Cys1425Tyr)
Condition(s)
- Synonyms:
- none provided
- Identifiers:
- MedGen: C3661900
-
EC2BBA15CH10.g1 Xenopus tropicalis xtbs plasmid library Xenopus tropicalis cDNA ...
EC2BBA15CH10.g1 Xenopus tropicalis xtbs plasmid library Xenopus tropicalis cDNA clone xtbs15P19 5', mRNA sequencegi|45854994|gnl|dbEST|22187174|gb|C 37.1|Nucleotide
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See more...Assertion and evidence details
Last Updated: Nov 25, 2023