Variant (rsID / SNP)

rs149005559

rs149005559 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to FRRS1L. Location: chromosome 9, position 111,909,398. Clinical significance in the table: Likely benign.

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Reference-table entries

FRRS1LLikely benign

Clinical significance (as recorded): Likely benign
Variant type: single nucleotide variant
Chromosome / position: 9:111909398
Cytoband: 9q31.3
HGVS: NM_014334.4(FRRS1L):c.395T>C (p.Val132Ala)
Allele change: Missense_V183A

Associated conditions / phenotypes

Developmental and epileptic encephalopathy, 37

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.