NM_000141.5(FGFR2):c.186C>T (p.Cys62=) AND FGFR2-related craniosynostosis
- Germline classification:
- Likely benign (1 submission)
- Last evaluated:
- Oct 23, 2023
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV003754311.2
Allele description [Variation Report for NM_000141.5(FGFR2):c.186C>T (p.Cys62=)]
NM_000141.5(FGFR2):c.186C>T (p.Cys62=)
Condition(s)
- Name:
- FGFR2-related craniosynostosis
- Identifiers:
- MedGen: CN231480
-
UNVERIFIED: Delonix regia clone 01 RBPCO gene, partial sequence
UNVERIFIED: Delonix regia clone 01 RBPCO gene, partial sequencegi|554791165|gb|KF379497.1|Nucleotide
-
UNVERIFIED: Colvillea racemosa clone 01 RBPCO gene, partial sequence
UNVERIFIED: Colvillea racemosa clone 01 RBPCO gene, partial sequencegi|554791158|gb|KF379490.1|Nucleotide
-
UNVERIFIED: Tara spinosa UDPGD gene, partial sequence
UNVERIFIED: Tara spinosa UDPGD gene, partial sequencegi|554791067|gb|KF379399.1|Nucleotide
-
RecName: Full=Late secretory pathway protein AVL9 homolog
RecName: Full=Late secretory pathway protein AVL9 homologgi|110808558|sp|Q80U56.2|AVL9_MOUSEProtein
-
Mindy4 MINDY lysine 48 deubiquitinase 4 [Mus musculus]
Mindy4 MINDY lysine 48 deubiquitinase 4 [Mus musculus]Gene ID:330323Gene
Your browsing activity is empty.
Activity recording is turned off.
See more...Assertion and evidence details
Last Updated: Sep 29, 2024