Variant (rsID / SNP)

rs3812153

rs3812153 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to ELOVL4. Location: chromosome 6, position 80,626,375. Clinical significance in the table: Benign.

ShareE-Mail WhatsApp LinkedIn X Facebook Telegram

Reference-table entries

ELOVL4Benign

Clinical significance (as recorded): Benign
Variant type: single nucleotide variant
Chromosome / position: 6:80626375
Cytoband: 6q14.1
HGVS: NM_022726.4(ELOVL4):c.895A>G (p.Met299Val)
Allele change: Missense_M299V

Associated conditions / phenotypes

Stargardt disease 3|Congenital ichthyosis-intellectual disability-spastic quadriplegia syndrome|Spinocerebellar ataxia type 34

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.