NM_005413.4(SIX3):c.58G>T (p.Ala20Ser) AND Holoprosencephaly 2
- Germline classification:
- Benign (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:
- RCV002536789.9
Allele description [Variation Report for NM_005413.4(SIX3):c.58G>T (p.Ala20Ser)]
NM_005413.4(SIX3):c.58G>T (p.Ala20Ser)
Condition(s)
-
Microcephalic primordial dwarfism due to ZNF335 deficiency
Microcephalic primordial dwarfism due to ZNF335 deficiencyMedGen
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See more...Assertion and evidence details
Last Updated: May 7, 2024