NM_020975.6(RET):c.2531G>A (p.Arg844Gln) AND Hirschsprung disease, susceptibility to, 1
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Oct 13, 2023
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV003466869.1
Allele description [Variation Report for NM_020975.6(RET):c.2531G>A (p.Arg844Gln)]
NM_020975.6(RET):c.2531G>A (p.Arg844Gln)
Condition(s)
-
cdc42 effector protein 1 [Homo sapiens]
cdc42 effector protein 1 [Homo sapiens]gi|23238226|ref|NP_689449.1|Protein
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Last Updated: Sep 16, 2024