Variant (rsID / SNP)

rs17040904

rs17040904 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to LRIT3. Location: chromosome 4, position 110,772,711. Clinical significance in the table: Benign/Likely benign.

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Reference-table entries

LRIT3Benign

Clinical significance (as recorded): Benign/Likely benign
Variant type: single nucleotide variant
Chromosome / position: 4:110772711
Cytoband: 4q25
HGVS: NM_198506.5(LRIT3):c.168C>T (p.Pro56=)
Allele change: Synonymous_P56P

Associated conditions / phenotypes

Congenital Stationary Night Blindness, Recessive

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.