NM_182961.4(SYNE1):c.19255C>G (p.Gln6419Glu) AND multiple conditions
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Aug 9, 2022
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV000706119.4
Allele description [Variation Report for NM_182961.4(SYNE1):c.19255C>G (p.Gln6419Glu)]
NM_182961.4(SYNE1):c.19255C>G (p.Gln6419Glu)
Condition(s)
-
ankyrin repeat domain 36 isoform X10 [Mus musculus]
ankyrin repeat domain 36 isoform X10 [Mus musculus]gi|1039738606|ref|XP_017170317.1|Protein
-
Mus musculus 10 days embryo whole body cDNA, RIKEN full-length enriched library,...
Mus musculus 10 days embryo whole body cDNA, RIKEN full-length enriched library, clone:2610002D17 product:hypothetical Signal peptidase containing protein, full insert sequencegi|12847294|dbj|AK011278.1|Nucleotide
-
Progeroid facial appearance
Progeroid facial appearanceMedGen
-
C1857710[conceptid] (1)
MedGen
-
PM1-NN1207-251100-008-h06 NN1207 Homo sapiens cDNA, mRNA sequence
PM1-NN1207-251100-008-h06 NN1207 Homo sapiens cDNA, mRNA sequencegi|12374899|gnl|dbEST|7529967|gb|BF 4.1|Nucleotide
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Last Updated: May 7, 2024