Variant (rsID / SNP)

rs3747517

rs3747517 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to IFIH1. Location: chromosome 2, position 163,128,824. Clinical significance in the table: Benign.

ShareE-Mail WhatsApp LinkedIn X Facebook Telegram

Reference-table entries

IFIH1Benign

Clinical significance (as recorded): Benign
Variant type: single nucleotide variant
Chromosome / position: 2:163128824
Cytoband: 2q24.2
HGVS: NM_022168.4(IFIH1):c.2528A>G (p.His843Arg)
Allele change: Missense_H843R

Associated conditions / phenotypes

Singleton-Merten syndrome 1|Singleton-Merten syndrome 1|Aicardi-Goutieres syndrome 7|Aicardi-Goutieres syndrome 7

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.