NM_170784.3(MKKS):c.830T>C (p.Leu277Pro) AND Bardet-Biedl syndrome 6
- Germline classification:
- Likely pathogenic (2 submissions)
- Last evaluated:
- Mar 27, 2024
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV000005639.7
Allele description [Variation Report for NM_170784.3(MKKS):c.830T>C (p.Leu277Pro)]
NM_170784.3(MKKS):c.830T>C (p.Leu277Pro)
Condition(s)
-
Calathus muchei isolate 173Cmuc elongation factor 1 alpha (Ef1a) gene, partial c...
Calathus muchei isolate 173Cmuc elongation factor 1 alpha (Ef1a) gene, partial cdsgi|408667804|gb|JQ688624.1|Nucleotide
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See more...Assertion and evidence details
Last Updated: Oct 20, 2024