NM_013352.4(DSE):c.516A>G (p.Thr172=) AND Ehlers-Danlos syndrome, musculocontractural type 2
- Germline classification:
- Likely benign (1 submission)
- Last evaluated:
- Dec 20, 2023
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV000912322.7
Allele description [Variation Report for NM_013352.4(DSE):c.516A>G (p.Thr172=)]
NM_013352.4(DSE):c.516A>G (p.Thr172=)
Condition(s)
-
hypothetical protein LIS061010_209 [Synechococcus phage S-RIM2]
hypothetical protein LIS061010_209 [Synechococcus phage S-RIM2]gi|1063197608|gb|AON98793.1|Protein
-
LOC100793534 [Glycine max]
LOC100793534 [Glycine max]Gene ID:100793534Gene
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See more...Assertion and evidence details
Last Updated: Feb 20, 2024