Variant (rsID / SNP)

rs186739072

rs186739072 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to RECQL4. Location: chromosome 8, position 145,738,230. Clinical significance in the table: Uncertain significance.

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Reference-table entries

RECQL4Uncertain significance

Clinical significance (as recorded): Uncertain significance
Variant type: single nucleotide variant
Chromosome / position: 8:145738230
Cytoband: 8q24.3
HGVS: NM_004260.4(RECQL4):c.2755G>A (p.Ala919Thr)
Allele change: Missense_A919T

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.