Variant (rsID / SNP)

rs386833844

rs386833844 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to RECQL4. Location: chromosome 8, position 145,740,620. Clinical significance in the table: Likely pathogenic.

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Reference-table entries

RECQL4Likely pathogenic

Clinical significance (as recorded): Likely pathogenic
Variant type: single nucleotide variant
Chromosome / position: 8:145740620
Cytoband: 8q24.3
HGVS: NM_004260.4(RECQL4):c.1397C>T (p.Pro466Leu)
Allele change: Missense_P466L

Associated conditions / phenotypes

Rapadilino syndrome|Baller-Gerold syndrome

Public references

dbSNP
ClinVar
Ensembl
gnomAD

Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.