NM_001001557.4(GDF6):c.957C>A (p.Ala319=) AND Klippel-Feil syndrome 1, autosomal dominant
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Jan 13, 2018
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV000404155.5
Allele description [Variation Report for NM_001001557.4(GDF6):c.957C>A (p.Ala319=)]
NM_001001557.4(GDF6):c.957C>A (p.Ala319=)
Condition(s)
-
Mus musculus matrix-remodelling associated 8, mRNA (cDNA clone MGC:31373 IMAGE:4...
Mus musculus matrix-remodelling associated 8, mRNA (cDNA clone MGC:31373 IMAGE:4239626), complete cdsgi|20071406|gb|BC026438.1|Nucleotide
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See more...Assertion and evidence details
Last Updated: Sep 29, 2024