Variant (rsID / SNP)

rs140977021

rs140977021 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to IFIH1. Location: chromosome 2, position 163,139,085. Clinical significance in the table: Likely benign.

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Reference-table entries

IFIH1Likely benign

Clinical significance (as recorded): Likely benign
Variant type: single nucleotide variant
Chromosome / position: 2:163139085
Cytoband: 2q24.2
HGVS: NM_022168.4(IFIH1):c.1097T>A (p.Val366Glu)
Allele change: Missense_V366E

Associated conditions / phenotypes

Singleton-Merten syndrome 1|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.