NM_181552.4(CUX1):c.3500_3503del (p.Arg1167fs) AND Global developmental delay with or without impaired intellectual development
- Germline classification:
- Likely pathogenic (1 submission)
- Last evaluated:
- Dec 19, 2022
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV002468669.1
Allele description [Variation Report for NM_181552.4(CUX1):c.3500_3503del (p.Arg1167fs)]
NM_181552.4(CUX1):c.3500_3503del (p.Arg1167fs)
Condition(s)
-
Barbastella beijingensis partial mRNA for potassium voltage-gated channel, KQT-l...
Barbastella beijingensis partial mRNA for potassium voltage-gated channel, KQT-like subfamily, member 4 (kcnq4 gene)gi|356893086|emb|HE608273.1|Nucleotide
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See more...Assertion and evidence details
Last Updated: Dec 24, 2022