NM_005477.3(HCN4):c.379G>A (p.Glu127Lys) AND Brugada syndrome 8
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Oct 25, 2023
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV000700797.7
Allele description [Variation Report for NM_005477.3(HCN4):c.379G>A (p.Glu127Lys)]
NM_005477.3(HCN4):c.379G>A (p.Glu127Lys)
Condition(s)
-
Mus musculus Fanconi anemia, complementation group G, mRNA (cDNA clone IMAGE:641...
Mus musculus Fanconi anemia, complementation group G, mRNA (cDNA clone IMAGE:6418786), complete cdsgi|29748079|gb|BC050890.1|Nucleotide
-
Reduced leukocyte alpha-mannosidase activity
Reduced leukocyte alpha-mannosidase activityMedGen
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See more...Assertion and evidence details
Last Updated: Sep 29, 2024