Variant (rsID / SNP)

rs746636748

rs746636748 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to RECQL4. Location: chromosome 8, position 145,741,454. Clinical significance in the table: Pathogenic/Likely pathogenic.

ShareE-Mail WhatsApp LinkedIn X Facebook Telegram

Reference-table entries

RECQL4Pathogenic

Clinical significance (as recorded): Pathogenic/Likely pathogenic
Variant type: Deletion
Chromosome / position: 8:145741454
Cytoband: 8q24.3
HGVS: NM_004260.4(RECQL4):c.1048_1049del (p.Arg350fs)

Associated conditions / phenotypes

Baller-Gerold syndrome|Rothmund-Thomson syndrome type 2

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.