NM_004260.4(RECQL4):c.1115G>C (p.Arg372Thr) AND Baller-Gerold syndrome
- Germline classification:
- Likely benign (1 submission)
- Last evaluated:
- Jan 24, 2024
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV000475244.11
Allele description [Variation Report for NM_004260.4(RECQL4):c.1115G>C (p.Arg372Thr)]
NM_004260.4(RECQL4):c.1115G>C (p.Arg372Thr)
Condition(s)
-
ilCloTita1 hap1
ilCloTita1 hap1Clossiana titania (Titania's fritillary) genome assembly, ilCloTita1 haplotype 1BioProject
-
neonatalDRG, CGM_96_94
neonatalDRG, CGM_96_94biosample
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See more...Assertion and evidence details
Last Updated: Oct 26, 2024