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Variant (rsID / SNP)

rs149900041

RERE

rs149900041 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to RERE. Location: chromosome 1, position 8,421,875. Clinical significance in the table: Conflicting interpretations of pathogenicity.

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Reference-table entries

REREConflicting interpretations
Clinical significance (as recorded)
Conflicting interpretations of pathogenicity
Variant type
single nucleotide variant
Chromosome / position
1:8421875
Cytoband
1p36.23
HGVS
NM_001042681.2(RERE):c.1964C>T (p.Ala655Val)
Allele change
Missense_A655V

Associated conditions / phenotypes

Neurodevelopmental disorder with or without anomalies of the brain, eye, or heart

Public references

Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.